Robert Nussbaum, MD

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address600 16th Street, #001
San Francisco CA 94158
Phone415-885-7779
ORCID ORCID Icon0000-0003-3445-8880 Additional info
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    Collapse Biography 
    Collapse Education and Training
    Harvard UniversityM.D.1975School of Medicine
    Collapse Awards and Honors
    Gertrud Reemtsma Foundation/Max Planck Society2011Klaus Joachim Zülch-Prize for Neurological Research
    American College of Physicians2010Elected Fellow
    UCSF2009Excellence In Teaching Award
    Lowe Syndrome Association2008Legacy Award
    NHGRI/NIH2004Distinguished Service Award
    Institute of Medicine2004Elected Member
    Medical College of Virginia2003Forbes Lectureship
    NIH1999G. Burroughs Mider Lectureship

    Collapse Overview 

    Collapse Research 
    Collapse Research Activities and Funding
    Clinical Genome Resource
    NIH U41HG006834Sep 23, 2013 - Jul 31, 2021
    Role: Co-Principal Investigator
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH U19HD077627Sep 5, 2013 - Aug 31, 2019
    Role: Co-Principal Investigator
    Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy
    NIH R01DK087728Apr 1, 2012 - Feb 28, 2015
    Role: Principal Investigator
    Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy
    NIH R56DK087728Sep 30, 2010 - Sep 29, 2011
    Role: Principal Investigator
    GI Endotoxin as an Environmental Trigger in an alpha-Synuclein Transgenic Mouse
    NIH R01ES017793Jul 6, 2010 - Jun 30, 2014
    Role: Principal Investigator
    Glucocerebrosidase mutations in a mouse synucleinopathy model
    NIH R33AG033941Mar 1, 2009 - Mar 31, 2012
    Role: Principal Investigator
    Glucocerebrosidase mutations in a mouse synucleinopathy model
    NIH R21AG033941Mar 1, 2009 - Feb 29, 2012
    Role: Principal Investigator
    POSTDOCTORAL TRAINING IN MOLECULAR GENETIC RESEARCH
    NIH T32GM008252Jul 1, 1988 - Aug 31, 1993
    Role: Principal Investigator
    MOLECULAR GENETIC ANALYSIS OF LOWE'S SYNDROME
    NIH R01HD023245Sep 1, 1987 - Aug 31, 1996
    Role: Co-Principal Investigator
    ISOLATING THE GENE FOR CHOROIDEREMIA
    NIH R01EY006566Apr 1, 1987 - Mar 31, 1995
    Role: Principal Investigator
    MOLECULAR ANALYSIS OF FRAGILE X IN SOMATIC CELL HYBRIDS
    NIH R01HD020227Sep 1, 1984 - Jun 30, 1988
    Role: Principal Investigator
    The Lowe Oculocerebrorenal Syndrome
    NIH Z01HG000040
    Role: Principal Investigator
    MICE DEFECTIVE IN PHOSPHATIDYLINOSITOL SIGNALING
    NIH Z01HG000041
    Role: Principal Investigator
    TRIPLET REPEAT AMPLIFICATION IN THE FRAGILE X SYNDROME
    NIH Z01HG000042
    Role: Principal Investigator
    Outcomes of Education and Counseling for HNPCC Testing
    NIH Z01HG000059
    Role: Co-Principal Investigator
    MUTATION ANALYSIS IN PATIENTS WITH LOWE OCULOCEREBRORENAL SYNDROME
    NIH Z01HG000067
    Role: Principal Investigator
    Genetics of Parkinson's Disease
    NIH Z01HG000117
    Role: Principal Investigator
    MOUSE MODEL FOR BATTEN'S DISEASE
    NIH Z01HG000141
    Role: Principal Investigator
    Batten disease
    NIH Z01HG000168
    Role: Principal Investigator
    Studies on mouse vit C transporter
    NIH Z01HG000169
    Role: Principal Investigator
    Positional cloning of autosomal dominant Fanconi Syndrom
    NIH Z01HG000184
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Implementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study. JCO Glob Oncol. 2024 Jun; 10:e2400068. Abdel-Razeq H, Sharaf B, Bani Hani H, Abu Hijlih R, Alkyam M, Al-Azzam K, Elemian S, Tbakhi A, Al-Atary A, Ellsworth RE, Russell EM, Esplin ED, Horani M, Zeidan Z, Alzibdeh A, Heald B, Nielsen SM, Nussbaum RL. PMID: 38843472.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives. J Natl Cancer Inst. 2024 Feb 08; 116(2):334-337. Heald B, Pirzadeh-Miller S, Ellsworth RE, Nielsen SM, Russell EM, Beitsch P, Esplin ED, Nussbaum RL, Pineda-Alvarez DE, Kurian AW, Hampel H. PMID: 37756683; PMCID: PMC10852611.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    3. Using a chat-based informed consent tool in large-scale genomic research. J Am Med Inform Assoc. 2024 Jan 18; 31(2):472-478. Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E. PMID: 37665746; PMCID: PMC10797258.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy. Circ Genom Precis Med. 2024 Feb; 17(1):e004028. Morales A, Moretz C, Ren S, Smith E, Callis TE, Hall T, Hatchell KE, Nussbaum RL, Regalado E, Rojahn S, Vatta M, Esplin ED, Murillo J. PMID: 38088168.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation. Am J Hum Genet. 2023 10 05; 110(10):1769-1786. van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. PMID: 37729906; PMCID: PMC10577081.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    6. Rate of Pathogenic Germline Variants in Patients With Lung Cancer. JCO Precis Oncol. 2023 Sep; 7:e2300190. Sorscher S, LoPiccolo J, Heald B, Chen E, Bristow SL, Michalski ST, Nielsen SM, Lacoste A, Keyder E, Lee H, Nussbaum RL, Martins R, Esplin ED. PMID: 37992258; PMCID: PMC10681406.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    7. Applications of artificial intelligence in clinical laboratory genomics. Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3):e32057. Aradhya S, Facio FM, Metz H, Manders T, Colavin A, Kobayashi Y, Nykamp K, Johnson B, Nussbaum RL. PMID: 37507620.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    8. Germline Genetic Testing in Unselected Squamous and Non-Squamous Head and Neck Cancers. Laryngoscope. 2023 12; 133(12):3378-3388. Brake DA, Idler BM, Kunze KL, Golafshar MA, Heald B, Young S, Klint M, Barrus K, Esplin ED, Nussbaum RL, Samadder NJ, Hinni ML, Chang BA. PMID: 37132629.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    9. Universal Genetic Testing vs. Guideline-Directed Testing for Hereditary Cancer Syndromes Among Traditionally Underrepresented Patients in a Community Oncology Program. Cureus. 2023 Apr; 15(4):e37428. Jones JC, Golafshar MA, Coston TW, Rao R, Wysokinska E, Johnson E, Esplin ED, Nussbaum RL, Heald B, Klint M, Barrus K, Uson PL, Nguyen CC, Colon-Otero G, Bekaii-Saab TS, Dronca R, Kunze KL, Samadder NJ. PMID: 37181954; PMCID: PMC10173369.
      View in: PubMed   Mentions: 1  
    10. Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. Am J Hum Genet. 2023 04 06; 110(4):551-564. Truty R, Rojahn S, Ouyang K, Kautzer C, Kennemer M, Pineda-Alvarez D, Johnson B, Stafford A, Basel-Salmon L, Saitta S, Slavotinek A, Chandrasekharappa SC, Suarez CJ, Burnett L, Nussbaum RL, Aradhya S. PMID: 36933558; PMCID: PMC10119133.
      View in: PubMed   Mentions: 3     Fields:    
    11. A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes. J Mol Diagn. 2023 03; 25(3):156-167. Kamps-Hughes N, Carlton VEH, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K. PMID: 36563937.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    12. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. 2022 12 01; 79(12):1267-1276. McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S, ELEVIATE Consortium, Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzmán GG, Pavliuk M. PMID: 36315135; PMCID: PMC9623482.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    13. Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer. JAMA Netw Open. 2022 10 03; 5(10):e2238167. Moretz C, Byfield SD, Hatchell KE, Dalton J, Onglao PN, Hang L, Hansen P, Radford C, Nielsen SM, Heald B, Munro SB, Nussbaum RL, Esplin ED. PMID: 36279135; PMCID: PMC9593236.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    14. Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA Cardiol. 2022 09 01; 7(9):966-974. Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. PMID: 35947370; PMCID: PMC9366660.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    15. Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer. JCO Precis Oncol. 2022 09; 6:e2100516. Esplin ED, Nielsen SM, Bristow SL, Garber JE, Hampel H, Rana HQ, Samadder NJ, Shore ND, Nussbaum RL. PMID: 36108258; PMCID: PMC9489188.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    16. Correction: Germline alterations among Hispanic men with prostate cancer. Prostate Cancer Prostatic Dis. 2022 Sep; 25(3):599. Pan E, Shaya J, Madlensky L, Randall JM, Javier-Desloges J, Millard FE, Rose B, Parsons JK, Nielsen SM, Hatchell KE, Esplin ED, Nussbaum RL, Weise N, Murphy J, Martinez ME, McKay RR. PMID: 35488122.
      View in: PubMed   Mentions:    Fields:    
    17. Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study. JCO Glob Oncol. 2022 07; 8:e2200104. Ossa Gomez CA, Achatz MI, Hurtado M, Sanabria-Salas MC, Sullcahuaman Y, Chávarri-Guerra Y, Dutil J, Nielsen SM, Esplin ED, Michalski ST, Bristow SL, Hatchell KE, Nussbaum RL, Pineda-Alvarez DE, Ashton-Prolla P. PMID: 35867948.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    18. The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives. Front Genet. 2022; 13:867226. Schmidlen TJ, Bristow SL, Hatchell KE, Esplin ED, Nussbaum RL, Haverfield EV. PMID: 35783293; PMCID: PMC9243226.
      View in: PubMed   Mentions: 5  
    19. Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients. Cancers (Basel). 2022 May 13; 14(10). Espinel W, Champine M, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman JA, Kipnis L, Sotelo J, Chittenden A, Culver S, Stopfer JE, Schneider KA, Sacca R, Koeller DR, Gaonkar S, Vaccari E, Kane S, Michalski ST, Yang S, Nielsen SM, Bristow SL, Lincoln SE, Nussbaum RL, Esplin ED. PMID: 35626031; PMCID: PMC9139211.
      View in: PubMed   Mentions: 2  
    20. Germline alterations among Hispanic men with prostate cancer. Prostate Cancer Prostatic Dis. 2022 09; 25(3):561-567. Pan E, Shaya J, Madlensky L, Randall JM, Javier-Desloges J, Millard FE, Rose B, Parsons JK, Nielsen SM, Hatchell KE, Esplin ED, Nussbaum RL, Weise N, Murphy J, Martinez ME, McKay RR. PMID: 35228665.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    21. Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study. Dig Dis Sci. 2022 Nov; 67(11):5107-5115. Uson PLS, Kunze KL, Golafshar MA, Botrus G, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Kahn A, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ. PMID: 35122589; PMCID: PMC9587949.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    22. Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits. Obstet Gynecol. 2021 12 01; 138(6):860-870. Nazareth S, Hayward L, Simmons E, Snir M, Hatchell KE, Rojahn S, Slotnick RN, Nussbaum RL. PMID: 34735417; PMCID: PMC8594498.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    23. Inherited TP53 Variants and Risk of Prostate Cancer. Eur Urol. 2022 Mar; 81(3):243-250. Maxwell KN, Cheng HH, Powers J, Gulati R, Ledet EM, Morrison C, Le A, Hausler R, Stopfer J, Hyman S, Kohlmann W, Naumer A, Vagher J, Greenberg SE, Naylor L, Laurino M, Konnick EQ, Shirts BH, AlDubayan SH, Van Allen EM, Nguyen B, Vijai J, Abida W, Carlo MI, Dubard-Gault M, Lee DJ, Maese LD, Mandelker D, Montgomery B, Morris MJ, Nicolosi P, Nussbaum RL, Schwartz LE, Stadler Z, Garber JE, Offit K, Schiffman JD, Nelson PS, Sartor O, Walsh MF, Pritchard CC. PMID: 34863587; PMCID: PMC8891030.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    24. Germline Cancer Susceptibility Gene Testing in Unselected Patients with Hepatobiliary Cancers: A Multi-Center Prospective Study. Cancer Prev Res (Phila). 2022 02; 15(2):121-128. Uson Junior PL, Kunze KL, Golafshar MA, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Barrus K, Mountjoy L, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ. PMID: 34782326.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    25. Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 Nov 03; 19(1):288. Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. PMID: 34732190; PMCID: PMC8567716.
      View in: PubMed   Mentions: 2     Fields:    
    26. Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions. Pediatr Cardiol. 2022 Mar; 43(3):616-623. Gal DB, Morales A, Rojahn S, Callis T, Garcia J, Priest JR, Truty R, Vatta M, Nussbaum RL, Esplin ED, Hollander SA. PMID: 34714385; PMCID: PMC8554517.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    27. Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study. Clin Transl Gastroenterol. 2021 10 08; 12(10):e00414. Uson PLS, Samadder NJ, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Kunze K, Golafshar M, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T. PMID: 34620795; PMCID: PMC8500569.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    28. Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy. Genet Med. 2021 Oct; 23(10):2014. Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, Basso C, Jongbloed JDH, Nussbaum RL, Funke B, Cerrone M, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Saguner AM, Elliott PM, Syrris P, van Tintelen JP, Regeneron Genetics Center, James CA, Haggerty CM, Parikh VN. PMID: 34408292; PMCID: PMC8486651.
      View in: PubMed   Mentions:    Fields:    
    29. Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program. Circ Genom Precis Med. 2021 10; 14(5):e003466. Trachtenberg BH, Shah SK, Nussbaum RL, Bristow SL, Malladi R, Vatta M. PMID: 34461735.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCTClinical Trials
    30. ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia. J Am Heart Assoc. 2021 09 07; 10(17):e019887. Moya-Mendez ME, Ogbonna C, Ezekian JE, Rosamilia MB, Prange L, de la Uz C, Kim JJ, Howard T, Garcia J, Nussbaum R, Truty R, Callis TE, Funk E, Heyes M, Dear GL, Carboni MP, Idriss SF, Mikati MA, Landstrom AP. PMID: 34459253; PMCID: PMC8649289.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    31. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Sci Immunol. 2021 08 19; 6(62). Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoglu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL, COVID Human Genetic Effort, COVID-STORM Clinicians, COVID Clinicians, Imagine COVID Group, French COVID Cohort Study Group, CoV-Contact Cohort, Amsterdam UMC Covid-, Biobank, NIAID-USUHS COVID Study Group, Bustamante J, Puel A, Boisson-Dupuis S, Zhang SY, Béziat V, Lifton RP, Bastard P, Notarangelo LD, Abel L, Su HC, Jouanguy E, Amara A, Soumelis V, Cobat A, Zhang Q, Casanova JL. PMID: 34413140; PMCID: PMC8532080.
      View in: PubMed   Mentions: 177     Fields:    Translation:Humans
    32. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Sci Immunol. 2021 08 19; 6(62). Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino-Neto A, Prando C, Bonradenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response to COVID Group, NH-COVAIR Study Group, Danish CHGE, Danish Blood Donor Study, St. James's Hospital, SARS CoV2 Interest group, French COVID Cohort Study Group, Imagine COVID-Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19, Biobank Investigators, COVID Human Genetic Effort, CONSTANCES cohort, 3C-Dijon Study, Cerba Health-Care, Etablissement du Sang study group, Anderson MS, Boisson B, Béziat V, Zhang SY, Vandreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova JL. PMID: 34413139; PMCID: PMC8521484.
      View in: PubMed   Mentions: 232     Fields:    Translation:Humans
    33. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 08 18; 19(1):199. Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. PMID: 34404389; PMCID: PMC8371767.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    34. Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis. JAMA Cardiol. 2021 08 01; 6(8):902-909. Sturm AC, Truty R, Callis TE, Aguilar S, Esplin ED, Garcia S, Haverfield EV, Morales A, Nussbaum RL, Rojahn S, Vatta M, Rader DJ. PMID: 34037665; PMCID: PMC8156154.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    35. Shifting landscapes of human MTHFR missense-variant effects. Am J Hum Genet. 2021 07 01; 108(7):1283-1300. Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP. PMID: 34214447; PMCID: PMC8322931.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimals
    36. Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark. JCO Precis Oncol. 2021; 5. Muller C, Nielsen SM, Hatchell KE, Yang S, Michalski ST, Hamlington B, Nussbaum RL, Esplin ED, Kupfer SS. PMID: 34585040; PMCID: PMC8462652.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    37. Challenges in providing residual risks in carrier testing. Prenat Diagn. 2021 Aug; 41(9):1049-1056. Nussbaum RL, Slotnick RN, Risch NJ. PMID: 34057205; PMCID: PMC8453722.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    38. The genetic architecture of Plakophilin 2 cardiomyopathy. Genet Med. 2021 10; 23(10):1961-1968. Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, Basso C, Jongbloed JDH, Nussbaum RL, Funke B, Cerrone M, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Saguner AM, Elliott PM, Syrris P, van Tintelen JP, Regeneron Genetics Center, James CA, Haggerty CM, Parikh VN. PMID: 34120153; PMCID: PMC8486657.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    39. One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation. Genet Med. 2021 09; 23(9):1673-1680. Lincoln SE, Hambuch T, Zook JM, Bristow SL, Hatchell K, Truty R, Kennemer M, Shirts BH, Fellowes A, Chowdhury S, Klee EW, Mahamdallie S, Cleveland MH, Vallone PM, Ding Y, Seal S, DeSilva W, Tomson FL, Huang C, Garlick RK, Rahman N, Salit M, Kingsmore SF, Ferber MJ, Aradhya S, Nussbaum RL. PMID: 34007000; PMCID: PMC8460443.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    40. Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study. Clin Gastroenterol Hepatol. 2022 03; 20(3):e508-e528. Uson PLS, Riegert-Johnson D, Boardman L, Kisiel J, Mountjoy L, Patel N, Lizaola-Mayo B, Borad MJ, Ahn D, Sonbol MB, Jones J, Leighton JA, Gurudu S, Singh H, Klint M, Kunze KL, Golafshar MA, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab TS, Jewel Samadder N. PMID: 33857637.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    41. Prioritizing genes for systematic variant effect mapping. Bioinformatics. 2021 04 01; 36(22-23):5448-5455. Kuang D, Truty R, Weile J, Johnson B, Nykamp K, Araya C, Nussbaum RL, Roth FP. PMID: 33300982; PMCID: PMC8016487.
      View in: PubMed   Mentions: 5     Fields:    
    42. Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers. Front Med (Lausanne). 2021; 8:647412. Primorac D, Odak L, Peric V, Catic J, Šikic J, Radeljic V, Manola Š, Nussbaum R, Vatta M, Aradhya S, Sofrenovic T, Matišic V, Molnar V, Skelin A, Mirat J, Brachmann J. PMID: 33829027; PMCID: PMC8019733.
      View in: PubMed   Mentions: 2  
    43. Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. Am J Hum Genet. 2021 04 01; 108(4):696-708. Truty R, Ouyang K, Rojahn S, Garcia S, Colavin A, Hamlington B, Freivogel M, Nussbaum RL, Nykamp K, Aradhya S. PMID: 33743207; PMCID: PMC8059334.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    44. Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk. Circ Genom Precis Med. 2021 02; 14(1):e003206. Vatta M, Truty R, Garcia J, Callis TE, Hatchell K, Rojahn S, Morales A, Aradhya S, Nussbaum R. PMID: 33517668.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    45. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncol. 2021 Feb 01; 7(2):230-237. Samadder NJ, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze KL, Golafshar M, Uson PLS, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez EA, Lizaola-Mayo B, Lehrer M, Thorpe CS, Yu NY, Esplin ED, Nussbaum RL, Sharp RR, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce AH, Bekaii-Saab TS, Sekulic A, Stewart AK. PMID: 33126242; PMCID: PMC7600058.
      View in: PubMed   Mentions: 83     Fields:    Translation:Humans
    46. Chatbots & artificial intelligence to scale genetic information delivery. J Genet Couns. 2021 02; 30(1):7-10. Nazareth S, Nussbaum RL, Siglen E, Wicklund CA. PMID: 33191601.
      View in: PubMed   Mentions: 8     Fields:    
    47. Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer. JAMA Netw Open. 2020 10 01; 3(10):e2019452. Lincoln SE, Nussbaum RL, Kurian AW, Nielsen SM, Das K, Michalski S, Yang S, Ngo N, Blanco A, Esplin ED. PMID: 33026450; PMCID: PMC7542302.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansCells
    48. Correspondence on "Is there a duty to reinterpret genetic data? The ethical dimensions" by Appelbaum et al. Genet Med. 2021 01; 23(1):232-233. Faulkner N, Aradhya S, Aradhya KW, Nussbaum RL. PMID: 32873930.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    49. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 09; 26(9):1392-1397. Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. PMID: 32778825; PMCID: PMC8800147.
      View in: PubMed   Mentions: 66     Fields:    Translation:HumansPHPublic Health
    50. Management of Secondary Genomic Findings. Am J Hum Genet. 2020 07 02; 107(1):3-14. Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG. PMID: 32619490; PMCID: PMC7332641.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    51. Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing. Int J Neonatal Screen. 2020 Jun; 6(2). Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R. PMID: 32802992; PMCID: PMC7423011.
      View in: PubMed   Mentions: 8  
    52. Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Neurol Genet. 2020 Apr; 6(2):e412. Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S. PMID: 32337338; PMCID: PMC7164976.
      View in: PubMed   Mentions: 11  
    53. Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome. Pacing Clin Electrophysiol. 2020 02; 43(2):210-216. Hammami Bomholtz S, Refaat M, Buur Steffensen A, David JP, Espinosa K, Nussbaum R, Wojciak J, Hjorth Bentzen B, Scheinman M, Schmitt N. PMID: 31899541.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    54. Publisher Correction: Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019 Sep 23; 10(1):4386. Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, Kühl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubinski J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardon A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bjørge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, Wichmann HE, Wiklund F, Winqvist R, Wolk A, Woll P, Woods M, et al. PMID: 31548585; PMCID: PMC6757065.
      View in: PubMed   Mentions: 2     Fields:    
    55. Germline Variants in Highly Selected Patients With Prostate Cancer-In Reply. JAMA Oncol. 2019 Sep 01; 5(9):1369. Sartor O, Nicolosi P, Nussbaum RL. PMID: 31294747.
      View in: PubMed   Mentions:    Fields:    
    56. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open. 2019 Sep; 4(3):397-408. Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. PMID: 31440721; PMCID: PMC6698688.
      View in: PubMed   Mentions: 38     Fields:    
    57. Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)". Genet Med. 2019 12; 21(12):2836-2837. Nussbaum RL, Haverfield E, Esplin ED, Aradhya S. PMID: 31239557.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansPHPublic Health
    58. OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. Hum Mol Genet. 2019 06 15; 28(12):1931-1946. Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O. PMID: 30590522; PMCID: PMC6548226.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansAnimalsCells
    59. Primary aldosteronism associated with a germline variant in CACNA1H. BMJ Case Rep. 2019 May 23; 12(5). Wulczyn K, Perez-Reyes E, Nussbaum RL, Park M. PMID: 31126930; PMCID: PMC6536178.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    60. Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines. JAMA Oncol. 2019 Apr 01; 5(4):523-528. Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O'Leary E, Esplin ED, Nussbaum RL, Sartor O. PMID: 30730552; PMCID: PMC6459112.
      View in: PubMed   Mentions: 123     Fields:    Translation:Humans
    61. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst. 2019 04 01; 111(4):350-364. Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M, Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB, Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L, Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G, Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A, Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C, Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yannoukakos D, GEMO Study Collaborators, HEBON, EMBRACE, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D. PMID: 30312457; PMCID: PMC6449171.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    62. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 03; 12(3):e005371. Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E. PMID: 30871351; PMCID: PMC6422044.
      View in: PubMed   Mentions: 55     Fields:    Translation:Humans
    63. Translational inhibition of α-synuclein by Posiphen normalizes distal colon motility in transgenic Parkinson mice. Am J Neurodegener Dis. 2019; 8(1):1-15. Kuo YM, Nwankwo EI, Nussbaum RL, Rogers J, Maccecchini ML. PMID: 30906671; PMCID: PMC6420700.
      View in: PubMed   Mentions: 17  
    64. Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019 01 25; 10(1):431. Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Batra J, Beckmann MW, Benitez J, Benlloch S, Berchuck A, Berndt SI, Bickeböller H, Bien SA, Blomqvist C, Boccia S, Bogdanova NV, Bojesen SE, Bolla MK, Brauch H, Brenner H, Brenton JD, Brook MN, Brunet J, Brunnström H, Buchanan DD, Burwinkel B, Butzow R, Cadoni G, Caldés T, Caligo MA, Campbell I, Campbell PT, Cancel-Tassin G, Cannon-Albright L, Campa D, Caporaso N, Carvalho AL, Chan AT, Chang-Claude J, Chanock SJ, Chen C, Christiani DC, Claes KBM, Claessens F, Clements J, Collée JM, Correa MC, Couch FJ, Cox A, Cunningham JM, Cybulski C, Czene K, Daly MB, deFazio A, Devilee P, Diez O, Gago-Dominguez M, Donovan JL, Dörk T, Duell EJ, Dunning AM, Dwek M, Eccles DM, Edlund CK, Edwards DRV, Ellberg C, Evans DG, Fasching PA, Ferris RL, Liloglou T, Figueiredo JC, Fletcher O, Fortner RT, Fostira F, Franceschi S, Friedman E, Gallinger SJ, Ganz PA, Garber J, García-Sáenz JA, Gayther SA, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, Goode EL, Goodman MT, Goodman G, Grankvist K, Greene MH, Gronberg H, Gronwald J, Guénel P, Håkansson N, Hall P, Hamann U, Hamdy FC, Hamilton RJ, Hampe J, Haugen A, Heitz F, Herrero R, Hillemanns P, Hoffmeister M, Høgdall E, Hong YC, Hopper JL, Houlston R, Hulick PJ, Hunter DJ, Huntsman DG, Idos G, Imyanitov EN, Ingles SA, Isaacs C, Jakubowska A, James P, Jenkins MA, Johansson M, Johansson M, John EM, Joshi AD, Kaneva R, Karlan BY, Kelemen LE, Kühl T, Khaw KT, Khusnutdinova E, Kibel AS, Kiemeney LA, Kim J, Kjaer SK, Knight JA, Kogevinas M, Kote-Jarai Z, Koutros S, Kristensen VN, Kupryjanczyk J, Lacko M, Lam S, Lambrechts D, Landi MT, Lazarus P, Le ND, Lee E, Lejbkowicz F, Lenz HJ, Leslie G, Lessel D, Lester J, Levine DA, Li L, Li CI, Lindblom A, Lindor NM, Liu G, Loupakis F, Lubinski J, Maehle L, Maier C, Mannermaa A, Marchand LL, Margolin S, May T, McGuffog L, Meindl A, Middha P, Miller A, Milne RL, MacInnis RJ, Modugno F, Montagna M, Moreno V, Moysich KB, Mucci L, Muir K, Mulligan AM, Nathanson KL, Neal DE, Ness AR, Neuhausen SL, Nevanlinna H, Newcomb PA, Newcomb LF, Nielsen FC, Nikitina-Zake L, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olama AAA, Olopade OI, Olshan AF, Olsson H, Osorio A, Pandha H, Park JY, Pashayan N, Parsons MT, Pejovic T, Penney KL, Peters WHM, Phelan CM, Phipps AI, Plaseska-Karanfilska D, Pring M, Prokofyeva D, Radice P, Stefansson K, Ramus SJ, Raskin L, Rennert G, Rennert HS, van Rensburg EJ, Riggan MJ, Risch HA, Risch A, Roobol MJ, Rosenstein BS, Rossing MA, De Ruyck K, Saloustros E, Sandler DP, Sawyer EJ, Schabath MB, Schleutker J, Schmidt MK, Setiawan VW, Shen H, Siegel EM, Sieh W, Singer CF, Slattery ML, Sorensen KD, Southey MC, Spurdle AB, Stanford JL, Stevens VL, Stintzing S, Stone J, Sundfeldt K, Sutphen R, Swerdlow AJ, Tajara EH, Tangen CM, Tardon A, Taylor JA, Teare MD, Teixeira MR, Terry MB, Terry KL, Thibodeau SN, Thomassen M, Bjørge L, Tischkowitz M, Toland AE, Torres D, Townsend PA, Travis RC, Tung N, Tworoger SS, Ulrich CM, Usmani N, Vachon CM, Van Nieuwenhuysen E, Vega A, Aguado-Barrera ME, Wang Q, Webb PM, Weinberg CR, Weinstein S, Weissler MC, Weitzel JN, West CML, White E, Whittemore AS, et al. PMID: 30683880; PMCID: PMC6347624.
      View in: PubMed   Mentions: 54     Fields:    Translation:Humans
    65. A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing. J Mol Diagn. 2019 03; 21(2):318-329. Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS. PMID: 30610921; PMCID: PMC6629256.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    66. Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6. JAMA Oncol. 2019 01 01; 5(1):120-121. Blanco AM, Topper S, Nussbaum RL. PMID: 30629138.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    67. Letter to the Editor. J Parkinsons Dis. 2019; 9(2):445. Nussbaum RL. PMID: 31127733.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    68. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet. 2018 12; 14(12):e1007752. Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M, BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB. PMID: 30586411; PMCID: PMC6324924.
      View in: PubMed   Mentions: 95     Fields:    Translation:Humans
    69. Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? J Clin Oncol. 2019 02 20; 37(6):453-460. Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL. PMID: 30526229; PMCID: PMC6380523.
      View in: PubMed   Mentions: 132     Fields:    Translation:HumansCells
    70. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA. 2018 Nov 13; 320(18):1929-1930. Biesecker LG, Nussbaum RL, Rehm HL. PMID: 30326012.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    71. Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine. Genet Med. 2019 05; 21(5):1250-1251. Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL. PMID: 30245515.
      View in: PubMed   Mentions: 1     Fields:    
    72. Conflicts of interest in genetic counseling: addressing and delivering. Genet Med. 2018 09; 20(9):1094-1095. Iacoboni D, Lynch K, Esplin ED, Nussbaum RL. PMID: 29300370.
      View in: PubMed   Mentions: 1     Fields:    
    73. Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark. Ann Surg Oncol. 2018 Oct; 25(10):2925-2931. Yang S, Axilbund JE, O'Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum RL. PMID: 29998407.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    74. Recurrent Renal Cysts in a Transplanted Kidney. Ann Intern Med. 2018 11 06; 169(9):657-658. Park M, Nussbaum RL. PMID: 29971405.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    75. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. Genet Med. 2019 01; 21(1):114-123. Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. PMID: 29895855; PMCID: PMC6752305.
      View in: PubMed   Mentions: 75     Fields:    Translation:Humans
    76. Genetics of Synucleinopathies. Cold Spring Harb Perspect Med. 2018 06 01; 8(6). Nussbaum RL. PMID: 28213435; PMCID: PMC5983162.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    77. Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. Mol Genet Genomic Med. 2018 May 28. Aradhya S, Nussbaum RL. PMID: 29807392; PMCID: PMC6081234.
      View in: PubMed   Mentions: 1     Fields:    
    78. Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify. Clin J Gastroenterol. 2018 Dec; 11(6):457-460. Kidambi TD, Goldberg D, Nussbaum R, Blanco A, Umetsu SE, Terdiman JP, Lee JK. PMID: 29766397; PMCID: PMC7749627.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    79. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 05; 39(5):593-620. Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B, EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A, GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J, HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL. PMID: 29446198; PMCID: PMC5903938.
      View in: PubMed   Mentions: 140     Fields:    Translation:Humans
    80. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med. 2018 09; 20(9):1054-1060. Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG, ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). PMID: 29300386; PMCID: PMC6336098.
      View in: PubMed   Mentions: 210     Fields:    Translation:Humans
    81. A framework for exhaustively mapping functional missense variants. Mol Syst Biol. 2017 12 21; 13(12):957. Weile J, Sun S, Cote AG, Knapp J, Verby M, Mellor JC, Wu Y, Pons C, Wong C, van Lieshout N, Yang F, Tasan M, Tan G, Yang S, Fowler DM, Nussbaum R, Bloom JD, Vidal M, Hill DE, Aloy P, Roth FP. PMID: 29269382; PMCID: PMC5740498.
      View in: PubMed   Mentions: 72     Fields:    Translation:Humans
    82. Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar. Genet Med. 2018 02; 20(2):282. Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. PMID: 29215652; PMCID: PMC7608259.
      View in: PubMed   Mentions:    Fields:    
    83. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet. 2017 Dec; 49(12):1767-1778. Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, Hui S, Lemaçon A, Soucy P, Dennis J, Jiang X, Rostamianfar A, Finucane H, Bolla MK, McGuffog L, Wang Q, Aalfs CM, ABCTB Investigators, Adams M, Adlard J, Agata S, Ahmed S, Ahsan H, Aittomäki K, Al-Ejeh F, Allen J, Ambrosone CB, Amos CI, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Auber B, Auer PL, Ausems MGEM, Azzollini J, Bacot F, Balmaña J, Barile M, Barjhoux L, Barkardottir RB, Barrdahl M, Barnes D, Barrowdale D, Baynes C, Beckmann MW, Benitez J, Bermisheva M, Bernstein L, Bignon YJ, Blazer KR, Blok MJ, Blomqvist C, Blot W, Bobolis K, Boeckx B, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Børresen-Dale AL, Bozsik A, Bradbury AR, Brand JS, Brauch H, Brenner H, Bressac-de Paillerets B, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Brunet J, Brüning T, Burwinkel B, Buys SS, Byun J, Cai Q, Caldés T, Caligo MA, Campbell I, Canzian F, Caron O, Carracedo A, Carter BD, Castelao JE, Castera L, Caux-Moncoutier V, Chan SB, Chang-Claude J, Chanock SJ, Chen X, Cheng TD, Chiquette J, Christiansen H, Claes KBM, Clarke CL, Conner T, Conroy DM, Cook J, Cordina-Duverger E, Cornelissen S, Coupier I, Cox A, Cox DG, Cross SS, Cuk K, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, Davidson R, De Leeneer K, Devilee P, Dicks E, Diez O, Ding YC, Ditsch N, Doheny KF, Domchek SM, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dubois S, Dugué PA, Dumont M, Dunning AM, Durcan L, Dwek M, Dworniczak B, Eccles D, Eeles R, Ehrencrona H, Eilber U, Ejlertsen B, Ekici AB, Eliassen AH, EMBRACE, Engel C, Eriksson M, Fachal L, Faivre L, Fasching PA, Faust U, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gaddam P, Gammon MD, Ganz PA, Gapstur SM, Garber J, Garcia-Barberan V, García-Sáenz JA, Gaudet MM, Gauthier-Villars M, Gehrig A, GEMO Study Collaborators, Georgoulias V, Gerdes AM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goodfellow P, Greene MH, Alnæs GIG, Grip M, Gronwald J, Grundy A, Gschwantler-Kaulich D, Guénel P, Guo Q, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hallberg E, Hamann U, Hamel N, Hankinson S, Hansen TVO, Harrington P, Hart SN, Hartikainen JM, Healey CS, HEBON, Hein A, Helbig S, Henderson A, Heyworth J, Hicks B, Hillemanns P, Hodgson S, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover B, Hopper JL, Hu C, Huang G, Hulick PJ, Humphreys K, Hunter DJ, Imyanitov EN, Isaacs C, Iwasaki M, Izatt L, Jakubowska A, James P, Janavicius R, Janni W, Jensen UB, John EM, Johnson N, Jones K, Jones M, Jukkola-Vuorinen A, Kaaks R, Kabisch M, Kaczmarek K, Kang D, Kast K, kConFab/AOCS Investigators, Keeman R, Kerin MJ, Kets CM, Keupers M, Khan S, Khusnutdinova E, Kiiski JI, Kim SW, Knight JA, Konstantopoulou I, Kosma VM, Kristensen VN, Kruse TA, Kwong A, Lænkholm AV, Laitman Y, Lalloo F, Lambrechts D, Landsman K, Lasset C, Lazaro C, Le Marchand L, Lecarpentier J, Lee A, Lee E, Lee JW, Lee MH, Lejbkowicz F, Lesueur F, Li J, Lilyquist J, Lincoln A, Lindblom A, Lissowska J, Lo WY, Loibl S, Long J, Loud JT, Lubinski J, Luccarini C, Lush M, MacInnis RJ, Maishman T, Makalic E, Kostovska IM, Malone KE, Manoukian S, Manson JE, Margolin S, Martens JWM, Martinez ME, Matsuo K, Mavroudis D, Mazoyer S, McLean C, Meijers-Heijboer H, Menéndez P, Meyer J, Miao H, Miller A, Miller N, Mitchell G, Montagna M, Muir K, Mulligan AM, Mulot C, Nadesan S, Nathanson KL, NBSC Collaborators, Neuhausen SL, Nevanlinna H, Nevelsteen I, Niederacher D, Nielsen SF, Nordestgaard BG, Norman A, Nussbaum RL, Olah E, Olopade OI, Olson JE, Olswold C, Ong KR, Oosterwijk JC, Orr N, et al. PMID: 29058716; PMCID: PMC5808456.
      View in: PubMed   Mentions: 179     Fields:    Translation:Humans
    84. α-Synuclein in gut endocrine cells and its implications for Parkinson's disease. JCI Insight. 2017 Jun 15; 2(12). Chandra R, Hiniker A, Kuo YM, Nussbaum RL, Liddle RA. PMID: 28614796; PMCID: PMC5470880.
      View in: PubMed   Mentions: 91     Fields:    
    85. Sources of discordance among germ-line variant classifications in ClinVar. Genet Med. 2017 10; 19(10):1118-1126. Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. PMID: 28569743; PMCID: PMC5632819.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
    86. Holocranohistochemistry enables the visualization of α-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects. J Neural Transm (Vienna). 2017 06; 124(6):721-738. Tomlinson JJ, Shutinoski B, Dong L, Meng F, Elleithy D, Lengacher NA, Nguyen AP, Cron GO, Jiang Q, Roberson ED, Nussbaum RL, Majbour NK, El-Agnaf OM, Bennett SA, Lagace DC, Woulfe JM, Sad S, Brown EG, Schlossmacher MG. PMID: 28477284; PMCID: PMC5446848.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    87. CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2017 05; 19(5):606. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. PMID: 28492529.
      View in: PubMed   Mentions: 12     Fields:    
    88. Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. JCO Precis Oncol. 2017 Jul; 1. Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL. PMID: 28782058; PMCID: PMC5542009.
      View in: PubMed   Mentions: 15     Fields:    
    89. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017 May; 49(5):680-691. Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC, Lee JM, Coetzee S, Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J, Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H, Antonenkova N, AOCS study group, Aravantinos G, Arnold N, Arun BK, Arver B, Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB, Bean Y, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ, Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A, Bonanni B, Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P, Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T, Caligo MA, Campbell I, Cannioto R, Carney ME, Cescon T, Chan SB, Chang-Claude J, Chanock S, Chen XQ, Chiew YE, Chiquette J, Chung WK, Claes KBM, Conner T, Cook LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio AA, Daly MB, Damiola F, Damirovna SD, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny KF, Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dossus L, Duran M, Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici AB, Ellis S, Elvira M, EMBRACE Study, Eng KH, Engel C, Evans DG, Fasching PA, Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J, García MJ, Garcia-Barberan V, Gehrig A, GEMO Study Collaborators, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova T, Gore M, Greene MH, Gronwald J, Gruber S, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harrington PA, Harris HR, Hauke J, HEBON Study, Hein A, Henderson A, Hildebrandt MAT, Hillemanns P, Hodgson S, Høgdall CK, Høgdall E, Hogervorst FBL, Holland H, Hooning MJ, Hosking K, Huang RY, Hulick PJ, Hung J, Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN, Isaacs C, Iversen ES, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen UB, John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A, Kast K, KConFab Investigators, Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim SW, Kjaer SK, Köbel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y, Lambrechts D, Larrañaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW, Lele SB, Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich C, Lilyquist J, Lipworth L, Lissowska J, Lu KH, Lubinnski J, Luccarini C, Lundvall L, Mai PL, Mendoza-Fandiño G, Manoukian S, Massuger LFAG, May T, Mazoyer S, McAlpine JN, McGuire V, McLaughlin JR, McNeish I, Meijers-Heijboer H, Meindl A, Menon U, Mensenkamp AR, Merritt MA, Milne RL, Mitchell G, Modugno F, Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O'Malley DM, Ong KR, Onland-Moret NC, OPAL study group, Orr N, Orsulic S, Osorio A, Palli D, Papi L, Park-Simon TW, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto A, Pejovic T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G, Phillips KA, Piedmonte M, Pike MC, Piskorz AM, Poblete SR, Pocza T, Poole EM, Poppe B, Porteous ME, Prieur F, Prokofyeva D, Pugh E, Pujana MA, Pujol P, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A, Robson M, Rodriguez GC, Rodríguez-Antona C, Romm J, Rookus MA, et al. PMID: 28346442; PMCID: PMC5612337.
      View in: PubMed   Mentions: 219     Fields:    Translation:Humans
    90. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell. 2017 03 23; 169(1):6-12. Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. PMID: 28340351; PMCID: PMC5511379.
      View in: PubMed   Mentions: 63     Fields:    Translation:HumansAnimals
    91. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet. 2017 04; 25(4):432-438. Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT, BCFR, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D, EMBRACE, Godwin AK, Meindl A, Schmutzler RK, GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, Hogervorst FB, HEBON, Lazaro C, Jakubowska A, Montagna M, KConFab Investigators, Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB. PMID: 28145423; PMCID: PMC5386423.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    92. Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes. J Clin Oncol. 2017 04 10; 35(11):1259-1261. Nussbaum RL, Yang S, Lincoln SE. PMID: 28135136.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    93. The Identification of Alpha-Synuclein as the First Parkinson Disease Gene. J Parkinsons Dis. 2017; 7(s1):S43-S49. Nussbaum RL. PMID: 28282812; PMCID: PMC5345646.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    94. Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. J Am Soc Nephrol. 2017 May; 28(5):1399-1407. Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S. PMID: 27895154; PMCID: PMC5407733.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimals
    95. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res. 2016 11 11; 18(1):112. Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson KL, Durda K, Ellis S, EMBRACE, Evans DG, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Glendon G, Godwin AK, Greene MH, Gronwald J, Hahnen E, Hallberg E, Hamann U, Hansen TV, HEBON, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska-Bieniek K, John EM, Karlan BY, Kaufman B, Investigators K, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Loman N, Lubinski J, Manoukian S, Mitchell G, Montagna M, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Offit K, Olah E, Olopade OI, Park SK, Piedmonte M, Radice P, Rappaport-Fuerhauser C, Rookus MA, Seynaeve C, Simard J, Singer CF, Soucy P, Southey M, Stoppa-Lyonnet D, Sukiennicki G, Szabo CI, Tancredi M, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Toloczko-Grabarek A, Tung N, van Rensburg EJ, Villano D, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Zidan J, Zorn KK, McGuffog L, Easton D, Chenevix-Trench G, Antoniou AC, Ramus SJ. PMID: 27836010; PMCID: PMC5106833.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCellsPHPublic Health
    96. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat. 2017 01; 161(1):117-134. Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B, EMBRACE, Engel C, Gareth Evans D, Feliubadalo L, Foretova L, Fostira F, Foulkes WD, Fountzilas G, Friedman E, Frost D, Ganschow P, Ganz PA, Garber J, Gayther SA, GEMO Study Collaborators, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gronwald J, Hahnen E, Hamann U, Hansen TV, Hart S, Hays JL, HEBON, Hogervorst FB, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Just W, Kaczmarek K, Karlan BY, KConFab Investigators, Kets CM, Kirk J, Kriege M, Laitman Y, Laurent M, Lazaro C, Leslie G, Lester J, Lesueur F, Liljegren A, Loman N, Loud JT, Manoukian S, Mariani M, Mazoyer S, McGuffog L, Meijers-Heijboer HE, Meindl A, Miller A, Montagna M, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Nussbaum RL, Olah E, Olopade OI, Ong KR, Oosterwijk JC, Osorio A, Papi L, Park SK, Pedersen IS, Peissel B, Segura PP, Peterlongo P, Phelan CM, Radice P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Richardson A, Robson M, Rodriguez GC, Rookus MA, Schmutzler RK, Sevenet N, Shah PD, Singer CF, Slavin TP, Snape K, Sokolowska J, Sønderstrup IM, Southey M, Spurdle AB, Stadler Z, Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Tan Y, Tea MK, Teixeira MR, Teulé A, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van den Ouweland AM, van der Luijt RB, van Engelen K, van Rensburg EJ, Varon-Mateeva R, Wappenschmidt B, Wijnen JT, Rebbeck T, Chenevix-Trench G, Offit K, Couch FJ, Nord S, Easton DF, Antoniou AC, Simard J. PMID: 27796716; PMCID: PMC5222911.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    97. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nat Commun. 2016 09 07; 7:12675. Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB, GEMO Study Collaborators, Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S, EMBRACE, Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN, KConFab Investigators, Australian Ovarian Cancer Study Group, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA. PMID: 27601076; PMCID: PMC5023955.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    98. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Res. 2016 06 21; 18(1):64. Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ, Bogdanova NV, Bojesen SE, Bonanni B, Borresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Broeks A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I, Carpenter J, Chang-Claude J, Choi JY, Claes KB, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z, Ejlertsen B, Ellis S, Frost D, Lalloo F, EMBRACE, Fasching PA, Figueroa J, Flyger H, Friedlander M, Friedman E, Gambino G, Gao YT, Garber J, García-Closas M, Gehrig A, Damiola F, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, behalf of GEMO Study Collaborators, Giles GG, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Haiman CA, Hallberg E, Hamann U, Hansen TV, Hart S, Hartikainen JM, Hartman M, Hassan N, Healey S, Hogervorst FB, Verhoef S, HEBON, Hendricks CB, Hillemanns P, Hollestelle A, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY, Kauppila S, Kerin MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J, Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio A, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N, Radice P, Rahman N, Ramus SJ, Rashid MU, Rennert G, Rhiem K, Rudolph A, Salani R, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schürmann P, Seynaeve C, Shen CY, Shrubsole MJ, Shu XO, Sigurdson A, Singer CF, Slager S, Soucy P, Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry MB, Tessier DC, Teulé A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N, Turnbull C, van den Ouweland AM, van Rensburg EJ, Ven den Berg D, Vijai J, Wang-Gohrke S, Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu JC, Pharoah PD, Hall P, Chenevix-Trench G, KConFab, AOCS Investigators, Dunning AM, Simard J, Couch FJ, Antoniou AC, Easton DF, Zheng W. PMID: 27459855; PMCID: PMC4962376.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCellsPHPublic Health
    99. The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin. Cancer Res. 2016 05 01; 76(9):2778-90. Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O'Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, Karlan B, Gourley C, Lambrechts D, Chenevix-Trench G, Olsson H, Benitez JJ, Greene MH, Gore M, Nussbaum R, Sadetzki S, Gayther SA, Kjaer SK, kConFab Investigators, D'Andrea AD, Shapiro GI, Wiest DL, Connolly DC, Daly MB, Swisher EM, Bouwman P, Jonkers J, Balmaña J, Serra V, Johnson N. PMID: 27197267; PMCID: PMC4874568.
      View in: PubMed   Mentions: 127     Fields:    Translation:HumansAnimalsCells
    100. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun. 2016 04 27; 7:11375. Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomäki K, Ambrosone C, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Barile M, Barkardottir RB, Barrowdale D, Beckmann L, Beckmann MW, Benitez J, Blank SV, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldes T, Caligo MA, Canzian F, Carpenter J, Chang-Claude J, Chanock SJ, Chung WK, Claes KB, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Dumont M, Dunning AM, Eccles DM, Ehrencrona H, Ekici AB, Eliassen H, Ellis S, Fasching PA, Figueroa J, Flesch-Janys D, Försti A, Fostira F, Foulkes WD, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon MD, Ganz PA, Gapstur SM, Garber J, Gaudet MM, Gayther SA, Gerdes AM, Ghoussaini M, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Gunter M, Haeberle L, Haiman CA, Hamann U, Hansen TV, Hart S, Healey S, Heikkinen T, Henderson BE, Herzog J, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Humphreys K, Hunter DJ, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Jones M, Kabisch M, Kar S, Karlan BY, Khan S, Khaw KT, Kibriya MG, Knight JA, Ko YD, Konstantopoulou I, Kosma VM, Kristensen V, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Lee E, Le Marchand L, Lester J, Lindblom A, Lindor N, Lindstrom S, Liu J, Long J, Lubinski J, Mai PL, Makalic E, Malone KE, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens JW, McGuffog L, Meindl A, Miller A, Milne RL, Miron P, Montagna M, Mazoyer S, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson JE, Osorio A, Park SK, Peeters PH, Peissel B, Peterlongo P, Peto J, Phelan CM, Pilarski R, Poppe B, Pylkäs K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers EJ, Sanchez MJ, Santella RM, Sawyer EJ, Schmidt DF, Schmidt MK, Schmutzler RK, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer CF, Sinilnikova OM, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo CI, Tamimi R, Tapper W, Teixeira MR, Teo SH, Terry MB, Thomassen M, Thompson D, Tihomirova L, Toland AE, Tollenaar RA, Tomlinson I, Truong T, Tsimiklis H, Teulé A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen CH, van Rensburg EJ, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel JN, Whittemore A, Wildiers H, Winqvist R, Yang XR, Yannoukakos D, Yao S, Zamora MP, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah PD, Monteiro AA, García-Closas M, Easton DF, Antoniou AC. PMID: 27117709; PMCID: PMC4853421.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansCells
    101. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016 Apr; 48(4):374-86. Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H, Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot W, Cai Q, Ghoussaini M, Perkins BJ, Shah M, Choi JY, Kang D, Lee SC, Hartman M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Brennan P, Sangrajrang S, Ambrosone CB, Toland AE, Shen CY, Wu PE, Orr N, Swerdlow A, McGuffog L, Healey S, Lee A, Kapuscinski M, John EM, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ejlertsen B, Hansen TV, Osorio A, Benitez J, Rando R, Weitzel JN, Bonanni B, Peissel B, Manoukian S, Papi L, Ottini L, Konstantopoulou I, Apostolou P, Garber J, Rashid MU, Frost D, EMBRACE, Izatt L, Ellis S, Godwin AK, Arnold N, Niederacher D, Rhiem K, Bogdanova-Markov N, Sagne C, Stoppa-Lyonnet D, Damiola F, GEMO Study Collaborators, Sinilnikova OM, Mazoyer S, Isaacs C, Claes KB, De Leeneer K, de la Hoya M, Caldes T, Nevanlinna H, Khan S, Mensenkamp AR, HEBON, Hooning MJ, Rookus MA, Kwong A, Olah E, Diez O, Brunet J, Pujana MA, Gronwald J, Huzarski T, Barkardottir RB, Laframboise R, Soucy P, Montagna M, Agata S, Teixeira MR, kConFab Investigators, Park SK, Lindor N, Couch FJ, Tischkowitz M, Foretova L, Vijai J, Offit K, Singer CF, Rappaport C, Phelan CM, Greene MH, Mai PL, Rennert G, Imyanitov EN, Hulick PJ, Phillips KA, Piedmonte M, Mulligan AM, Glendon G, Bojesen A, Thomassen M, Caligo MA, Yoon SY, Friedman E, Laitman Y, Borg A, von Wachenfeldt A, Ehrencrona H, Rantala J, Olopade OI, Ganz PA, Nussbaum RL, Gayther SA, Nathanson KL, Domchek SM, Arun BK, Mitchell G, Karlan BY, Lester J, Maskarinec G, Woolcott C, Scott C, Stone J, Apicella C, Tamimi R, Luben R, Khaw KT, Helland Å, Haakensen V, Dowsett M, Pharoah PD, Simard J, Hall P, García-Closas M, Vachon C, Chenevix-Trench G, Antoniou AC, Easton DF, Edwards SL. PMID: 26928228; PMCID: PMC4938803.
      View in: PubMed   Mentions: 83     Fields:    Translation:HumansCells
    102. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016; 16(5):521-32. Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. PMID: 26810587; PMCID: PMC4841021.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    103. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016 Feb 09; 18(1):15. Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim SW, kConFab Investigators, Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S, EMBRACE, Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B, Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. PMID: 26857456; PMCID: PMC4746828.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    104. USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE. Pac Symp Biocomput. 2016; 21:568-75. Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J. PMID: 26776219.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansPHPublic Health
    105. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst. 2016 Feb; 108(2). Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, EMBRACE, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A, kConFab Investigators, James PA, Bruinsma F, Campbell IG, Australia Ovarian Cancer Study Group, Broeks A, Schmidt MK, Hogervorst FB, HEBON, Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry KL, Poole EM, Tworoger SS, Dorfling CM, van Rensburg EJ, Godwin AK, Guénel P, Truong T, GEMO Study Collaborators, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova OM, Isaacs C, Maugard C, Bojesen SE, Flyger H, Gerdes AM, Hansen TV, Jensen A, Kjaer SK, Hogdall C, Hogdall E, Pedersen IS, Thomassen M, Benitez J, González-Neira A, Osorio A, Hoya Mde L, Segura PP, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John EM, Neuhausen SL, Ding YC, Castillo D, Weitzel JN, Ganz PA, Nussbaum RL, Chan SB, Karlan BY, Lester J, Wu A, Gayther S, Ramus SJ, Sieh W, Whittermore AS, Monteiro AN, Phelan CM, Terry MB, Piedmonte M, Offit K, Robson M, Levine D, Moysich KB, Cannioto R, Olson SH, Daly MB, Nathanson KL, Domchek SM, Lu KH, Liang D, Hildebrant MA, Ness R, Modugno F, Pearce L, Goodman MT, Thompson PJ, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Brüning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari LM, Aittomäki K, Butzow R, Bogdanova NV, Dörk T, Lindblom A, Margolin S, Rantala J, Kosma VM, Mannermaa A, Lambrechts D, Neven P, Claes KB, Maerken TV, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira MR, Collavoli A, Hallberg E, Olson JE, Goode EL, Hart SN, Shimelis H, Cunningham JM, Giles GG, Milne RL, Healey S, Tucker K, Haiman CA, Henderson BE, Goldberg MS, Tischkowitz M, Simard J, Soucy P, Eccles DM, Le N, Borresen-Dale AL, Kristensen V, Salvesen HB, Bjorge L, Bandera EV, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkäs K, Tollenaar RA, Ouweland AM, Andrulis IL, Knight JA, OCGN, Narod S, Devilee P, Winqvist R, Figueroa J, Greene MH, Mai PL, Loud JT, García-Closas M, Schoemaker MJ, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park SK, Teo SH, Yoon SY, Matsuo K, Hosono S, Woo YL, Gao YT, Foretova L, Singer CF, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov EN, Hulick PJ, Olopade OI, Senter L, Olah E, Doherty JA, Schildkraut J, Koppert LB, Kiemeney LA, Massuger LF, Cook LS, Pejovic T, Li J, Borg A, Öfverholm A, Rossing MA, Wentzensen N, Henriksson K, Cox A, Cross SS, Pasini BJ, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson BA, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome, Antoniou AC, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning AM, Pharoah PD, Hall P, Easton DF, Couch FJ, Spurdle AB, Goldgar DE. PMID: 26586665; PMCID: PMC4907358.
      View in: PubMed   Mentions: 50     Fields:    Translation:Humans
    106. ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1379. Nussbaum RL, Rehm HL, ClinGen. PMID: 26430707.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    107. Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. J Clin Endocrinol Metab. 2015 Aug; 100(8):2832-6. Shah AD, Hsiao EC, O'Donnell B, Salmeen K, Nussbaum R, Krebs M, Baumgartner-Parzer S, Kaufmann M, Jones G, Bikle DD, Wang Y, Mathew AS, Shoback D, Block-Kurbisch I. PMID: 26097993; PMCID: PMC4524985.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    108. High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015 Jun 12; 5:10009. Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N. PMID: 26066609; PMCID: PMC4464365.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimals
    109. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS, ClinGen. PMID: 26014595; PMCID: PMC4474187.
      View in: PubMed   Mentions: 561     Fields:    Translation:Humans
    110. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecol Oncol. 2016 05; 141(2):386-401. Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modif, Hollestelle A, van der Baan FH, Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N, Arun BK, Arver B, Ashworth A, Australian Ovarian Cancer Study Group, Baglietto L, Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez J, Berger A, Berger R, Beuselinck B, Bisogna M, Bjorge L, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Brand JS, Brauch H, Breast Cancer Family Register, Brenner H, Brinton L, Brooks-Wilson A, Bruinsma F, Brunet J, Brüning T, Budzilowska A, Bunker CH, Burwinkel B, Butzow R, Buys SS, Caligo MA, Campbell I, Carter J, Chang-Claude J, Chanock SJ, Claes KBM, Collée JM, Cook LS, Couch FJ, Cox A, Cramer D, Cross SS, Cunningham JM, Cybulski C, Czene K, Damiola F, Dansonka-Mieszkowska A, Darabi H, de la Hoya M, deFazio A, Dennis J, Devilee P, Dicks EM, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Silva IDS, du Bois A, Dumont M, Dunning AM, Duran M, Easton DF, Eccles D, Edwards RP, Ehrencrona H, Ejlertsen B, Ekici AB, Ellis SD, EMBRACE, Engel C, Eriksson M, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Fontaine A, Fortuzzi S, Fostira F, Fridley BL, Friebel T, Friedman E, Friel G, Frost D, Garber J, García-Closas M, Gayther SA, GEMO Study Collaborators, GENICA Network, Gentry-Maharaj A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goodman MT, Gore M, Greene MH, Grip M, Gronwald J, Gschwantler Kaulich D, Guénel P, Guzman SR, Haeberle L, Haiman CA, Hall P, Halverson SL, Hamann U, Hansen TVO, Harter P, Hartikainen JM, Healey S, HEBON, Hein A, Heitz F, Henderson BE, Herzog J, T Hildebrandt MA, Høgdall CK, Høgdall E, Hogervorst FBL, Hopper JL, Humphreys K, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska K, Jensen A, Jensen UB, Johnson N, Jukkola-Vuorinen A, Kabisch M, Karlan BY, Kataja V, Kauff N, KConFab Investigators, Kelemen LE, Kerin MJ, Kiemeney LA, Kjaer SK, Knight JA, Knol-Bout JP, Konstantopoulou I, Kosma VM, Krakstad C, Kristensen V, Kuchenbaecker KB, Kupryjanczyk J, Laitman Y, Lambrechts D, Lambrechts S, Larson MC, Lasa A, Laurent-Puig P, Lazaro C, Le ND, Le Marchand L, Leminen A, Lester J, Levine DA, Li J, Liang D, Lindblom A, Lindor N, Lissowska J, Long J, Lu KH, Lubinski J, Lundvall L, Lurie G, Mai PL, Mannermaa A, Margolin S, Mariette F, Marme F, Martens JWM, Massuger LFAG, Maugard C, Mazoyer S, McGuffog L, McGuire V, McLean C, McNeish I, Meindl A, Menegaux F, Menéndez P, Menkiszak J, Menon U, Mensenkamp AR, Miller N, Milne RL, Modugno F, Montagna M, Moysich KB, Müller H, Mulligan AM, Muranen TA, Narod SA, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nielsen SF, Nordestgaard BG, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olson SH, Oosterwijk JC, Orlow I, Orr N, Orsulic S, Osorio A, Ottini L, Paul J, Pearce CL, Pedersen IS, Peissel B, Pejovic T, Pelttari LM, Perkins J, Permuth-Wey J, Peterlongo P, Peto J, Phelan CM, Phillips KA, Piedmonte M, Pike MC, Platte R, Plisiecka-Halasa J, Poole EM, Poppe B, Pylkäs K, Radice P, Ramus SJ, Rebbeck TR, Reed MWR, Rennert G, Risch HA, Robson M, Rodriguez GC, Romero A, Rossing MA, Rothstein JH, Rudolph A, Runnebaum I, Salani R, Salvesen HB, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schrauder MG, Schumacher F, Schwaab I, Scuvera G, Sellers TA, Severi G, Seynaeve CM, Shah M, Shrubsole M, et al. PMID: 25940428; PMCID: PMC4630206.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    111. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015 Apr 25; 17:61. Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A, Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS, Breast Cancer Family Registry, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC, Hansen TV, Osorio A, Benitez J, Conejero RA, Segota E, Weitzel JN, Thelander M, Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, EMBRACE, Douglas F, Cook J, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F, GEMO Study Collaborators, Dreyfus H, Barjhoux L, Golmard L, Uhrhammer N, Bonadona V, Sornin V, Bignon YJ, Carter J, Van Le L, Piedmonte M, DiSilvestro PA, de la Hoya M, Caldes T, Nevanlinna H, Aittomäki K, Jager A, van den Ouweland AM, Kets CM, Aalfs CM, van Leeuwen FE, Hogervorst FB, Meijers-Heijboer HE, HEBON, Oosterwijk JC, van Roozendaal KE, Rookus MA, Devilee P, van der Luijt RB, Olah E, Diez O, Teulé A, Lazaro C, Blanco I, Del Valle J, Jakubowska A, Sukiennicki G, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Agnarsson BA, Maugard C, Amadori A, Montagna M, Teixeira MR, Spurdle AB, Foulkes W, Olswold C, Lindor NM, Pankratz VS, Szabo CI, Lincoln A, Jacobs L, Corines M, Robson M, Vijai J, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Greene MH, Mai PL, Rennert G, Imyanitov EN, Mulligan AM, Glendon G, Andrulis IL, Tchatchou S, Toland AE, Pedersen IS, Thomassen M, Kruse TA, Jensen UB, Caligo MA, Friedman E, Zidan J, Laitman Y, Lindblom A, Melin B, Arver B, Loman N, Rosenquist R, Olopade OI, Nussbaum RL, Ramus SJ, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Mitchell G, Karlan BY, Lester J, Orsulic S, Stoppa-Lyonnet D, Thomas G, Simard J, Couch FJ, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Mazoyer S, Phelan CM, Sinilnikova OM, Cox DG. PMID: 25925750; PMCID: PMC4478717.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    112. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015 Apr 07; 313(13):1347-61. Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL, CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Zlowocka-Perlowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I. PMID: 25849179; PMCID: PMC4537700.
      View in: PubMed   Mentions: 217     Fields:    Translation:Humans
    113. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS One. 2015; 10(4):e0120020. Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay GR, Librado P, Sánchez-Gracia A, Rozas J, Bonifaci N, McGuffog L, Pankratz VS, Islam A, Mateo F, Berenguer A, Petit A, Català I, Brunet J, Feliubadaló L, Tornero E, Benítez J, Osorio A, Ramón y Cajal T, Nevanlinna H, Aittomäki K, Arun BK, Toland AE, Karlan BY, Walsh C, Lester J, Greene MH, Mai PL, Nussbaum RL, Andrulis IL, Domchek SM, Nathanson KL, Rebbeck TR, Barkardottir RB, Jakubowska A, Lubinski J, Durda K, Jaworska-Bieniek K, Claes K, Van Maerken T, Díez O, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, de la Hoya M, Caldés T, Dunning AM, Oliver C, Fineberg E, Cook M, Peock S, McCann E, Murray A, Jacobs C, Pichert G, Lalloo F, Chu C, Dorkins H, Paterson J, Ong KR, Teixeira MR, Teixeira, Hogervorst FB, van der Hout AH, Seynaeve C, van der Luijt RB, Ligtenberg MJ, Devilee P, Wijnen JT, Rookus MA, Meijers-Heijboer HE, Blok MJ, van den Ouweland AM, Aalfs CM, Rodriguez GC, Phillips KA, Piedmonte M, Nerenstone SR, Bae-Jump VL, O'Malley DM, Ratner ES, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Bojesen A, Pedersen IS, Sunde L, Jensen UB, Thomassen M, Kruse TA, Foretova L, Peterlongo P, Bernard L, Peissel B, Scuvera G, Manoukian S, Radice P, Ottini L, Montagna M, Agata S, Maugard C, Simard J, Soucy P, Berger A, Fink-Retter A, Singer CF, Rappaport C, Geschwantler-Kaulich D, Tea MK, Pfeiler G, BCFR, John EM, Miron A, Neuhausen SL, Terry MB, Chung WK, Daly MB, Goldgar DE, Janavicius R, Dorfling CM, van Rensburg EJ, Fostira F, Konstantopoulou I, Garber J, Godwin AK, Olah E, Narod SA, Rennert G, Paluch SS, Laitman Y, Friedman E, SWE-BRCA, Liljegren A, Rantala J, Stenmark-Askmalm M, Loman N, Imyanitov EN, Hamann U, kConFab Investigators, Spurdle AB, Healey S, Weitzel JN, Herzog J, Margileth D, Gorrini C, Esteller M, Gómez A, Sayols S, Vidal E, Heyn H, GEMO, Stoppa-Lyonnet D, Léoné M, Barjhoux L, Fassy-Colcombet M, de Pauw A, Lasset C, Ferrer SF, Castera L, Berthet P, Cornelis F, Bignon YJ, Damiola F, Mazoyer S, Sinilnikova OM, Maxwell CA, Vijai J, Robson M, Kauff N, Corines MJ, Villano D, Cunningham J, Lee A, Lindor N, Lázaro C, Easton DF, Offit K, Chenevix-Trench G, Couch FJ, Antoniou AC, Pujana MA. PMID: 25830658; PMCID: PMC4382299.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    114. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015 Feb; 47(2):164-71. Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S, EMBRACE, Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM, GEMO Study Collaborators, Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC, Breast Cancer Family Registry, Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB, HEBON, Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira MR, KConFab Investigators, Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N, Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y, Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI, Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C, Lester J, Australian Cancer Study (Ovarian Cancer Investigators), Australian Ovarian Cancer Study Group, Hein A, Ekici AB, Beckmann MW, Fasching PA, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA, Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U, Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ, Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N, Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP, Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S, Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL, Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I, Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L, Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H, Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G, Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC, Chenevix-Trench G, Consortium of Investigators of Modifiers of BRCA1 and BRCA2. PMID: 25581431; PMCID: PMC4445140.
      View in: PubMed   Mentions: 138     Fields:    Translation:Humans
    115. Prolongation of Chemically-Induced Methemoglobinemia in Mice Lacking α-synuclein: A Novel Pharmacologic and Toxicologic Phenotype. Toxicol Rep. 2015; 2:504-511. Kuo YM, Nussbaum RL. PMID: 25859428; PMCID: PMC4386288.
      View in: PubMed   Mentions: 5  
    116. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2014 Dec 31; 16(6):3416. Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, Radice P, Ramus SJ, Domchek SM, Nathanson KL, Lee A, Healey S, Nussbaum RL, Rebbeck TR, Arun BK, James P, Karlan BY, Lester J, Cass I, Breast Cancer Family Registry, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, v O Hansen T, Ejlertsen B, Gerdes AM, Nielsen FC, Dennis J, Cunningham J, Hart S, Slager S, Osorio A, Benitez J, Duran M, Weitzel JN, Tafur I, Hander M, Peterlongo P, Manoukian S, Peissel B, Roversi G, Scuvera G, Bonanni B, Mariani P, Volorio S, Dolcetti R, Varesco L, Papi L, Tibiletti MG, Giannini G, Fostira F, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, EMBRACE Study, Douglas F, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Ellis S, Godwin AK, Rhiem K, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Steinemann D, Bogdanova-Markov N, Kast K, Varon-Mateeva R, Wang-Gohrke S, Gehrig A, Markiefka B, Buecher B, Lefol C, Stoppa-Lyonnet D, Rouleau E, Prieur F, Damiola F, GEMO Study Collaborators, Barjhoux L, Faivre L, Longy M, Sevenet N, Sinilnikova OM, Mazoyer S, Bonadona V, Caux-Moncoutier V, Isaacs C, Van Maerken T, Claes K, Piedmonte M, Andrews L, Hays J, Rodriguez GC, Caldes T, de la Hoya M, Khan S, Hogervorst FB, Aalfs CM, de Lange JL, Meijers-Heijboer HE, van der Hout AH, Wijnen JT, van Roozendaal KE, Mensenkamp AR, van den Ouweland AM, van Deurzen CH, van der Luijt RB, HEBON, Olah E, Diez O, Lazaro C, Blanco I, Teulé A, Menendez M, Jakubowska A, Lubinski J, Cybulski C, Gronwald J, Jaworska-Bieniek K, Durda K, Arason A, Maugard C, Soucy P, Montagna M, Agata S, Teixeira MR, KConFab Investigators, Olswold C, Lindor N, Pankratz VS, Hallberg E, Wang X, Szabo CI, Vijai J, Jacobs L, Corines M, Lincoln A, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Mai PL, Greene MH, Rennert G, Imyanitov EN, Glendon G, Toland AE, Bojesen A, Pedersen IS, Jensen UB, Caligo MA, Friedman E, Berger R, Laitman Y, Rantala J, Arver B, Loman N, Borg A, Ehrencrona H, Olopade OI, Simard J, Easton DF, Chenevix-Trench G, Offit K, Couch FJ, Antoniou AC, CIMBA. PMID: 25919761; PMCID: PMC4406179.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    117. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015 Apr 01; 24(7):1836-42. Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. PMID: 25432535; PMCID: PMC4355019.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    118. Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer. Clin Cancer Res. 2015 Feb 01; 21(3):652-7. Candido-dos-Reis FJ, Song H, Goode EL, Cunningham JM, Fridley BL, Larson MC, Alsop K, Dicks E, Harrington P, Ramus SJ, de Fazio A, Mitchell G, Fereday S, Bolton KL, Gourley C, Michie C, Karlan B, Lester J, Walsh C, Cass I, Olsson H, Gore M, Benitez JJ, Garcia MJ, Andrulis I, Mulligan AM, Glendon G, Blanco I, Lazaro C, Whittemore AS, McGuire V, Sieh W, Montagna M, Alducci E, Sadetzki S, Chetrit A, Kwong A, Kjaer SK, Jensen A, Høgdall E, Neuhausen S, Nussbaum R, Daly M, Greene MH, Mai PL, Loud JT, Moysich K, Toland AE, Lambrechts D, Ellis S, Frost D, Brenton JD, Tischkowitz M, Easton DF, Antoniou A, Chenevix-Trench G, Gayther SA, Bowtell D, Pharoah PD, for EMBRACE, kConFab Investigators, Australian Ovarian Cancer Study Group. PMID: 25398451; PMCID: PMC4338615.
      View in: PubMed   Mentions: 70     Fields:    Translation:Humans
    119. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain. 2014 Dec; 137(Pt 12):3235-47. Fishbein I, Kuo YM, Giasson BI, Nussbaum RL. PMID: 25351739; PMCID: PMC4240298.
      View in: PubMed   Mentions: 50     Fields:    Translation:Animals
    120. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015 Jan; 24(1):308-16. Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M, Matricardi L, Lubinski J, Jakubowska A, Gómez Garcia EB, Olopade OI, Nussbaum RL, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J, Chung WK, Miron A, Southey MC, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Ding YC, Neuhausen SL, Hansen TV, Gerdes AM, Ejlertsen B, Jønson L, Osorio A, Martínez-Bouzas C, Benitez J, Conway EE, Blazer KR, Weitzel JN, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M, Ficarazzi F, Mariette F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice P, Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson R, Hodgson SV, Ellis S, Cole T, EMBRACE, Godwin AK, Claes K, Van Maerken T, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Wappenschmidt B, Wang-Gohrke S, Bressac-de Paillerets B, Buecher B, Delnatte C, Houdayer C, Stoppa-Lyonnet D, Damiola F, Coupier I, Barjhoux L, Venat-Bouvet L, Golmard L, Boutry-Kryza N, Sinilnikova OM, Caron O, Pujol P, Mazoyer S, Belotti M, GEMO Study Collaborators, Piedmonte M, Friedlander ML, Rodriguez GC, Copeland LJ, de la Hoya M, Segura PP, Nevanlinna H, Aittomäki K, van Os TA, Meijers-Heijboer HE, van der Hout AH, Vreeswijk MP, Hoogerbrugge N, Ausems MG, van Doorn HC, Collée JM, HEBON, Olah E, Diez O, Blanco I, Lazaro C, Brunet J, Feliubadalo L, Cybulski C, Gronwald J, Durda K, Jaworska-Bieniek K, Sukiennicki G, Arason A, Chiquette J, Teixeira MR, Olswold C, Couch FJ, Lindor NM, Wang X, Szabo CI, Offit K, Corines M, Jacobs L, Robson ME, Zhang L, Joseph V, Berger A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Glendon G, Tchatchou S, Andrulis IL, Toland AE, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Laitman Y, Rantala J, von Wachenfeldt A, Ehrencrona H, Askmalm MS, Borg Å, Kuchenbaecker KB, McGuffog L, Barrowdale D, Healey S, Lee A, Pharoah PD, Chenevix-Trench G, KConFab Investigators, Antoniou AC, Friedman E. PMID: 25336561; PMCID: PMC4294951.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    121. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909. Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. PMID: 24832166; PMCID: PMC4139167.
      View in: PubMed   Mentions: 85     Fields:    Translation:Humans
    122. Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2. Cancer. 2014 May 15; 120(10):1557-64. Jackson SA, Davis AA, Li J, Yi N, McCormick SR, Grant C, Fallen T, Crawford B, Loranger K, Litton J, Arun B, Vande Wydeven K, Sidani A, Farmer K, Sanders M, Hoskins K, Nussbaum R, Esserman L, Garber JE, Kaklamani VG, Northwestern Cancer Genetics Group. PMID: 24522996.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    123. Transgenic mice expressing S129 phosphorylation mutations in α-synuclein. Neurosci Lett. 2014 Mar 20; 563:96-100. Escobar VD, Kuo YM, Orrison BM, Giasson BI, Nussbaum RL. PMID: 24486885; PMCID: PMC4059511.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    124. Research on the premotor symptoms of Parkinson's disease: clinical and etiological implications. Environ Health Perspect. 2013 Nov-Dec; 121(11-12):1245-52. Chen H, Burton EA, Ross GW, Huang X, Savica R, Abbott RD, Ascherio A, Caviness JN, Gao X, Gray KA, Hong JS, Kamel F, Jennings D, Kirshner A, Lawler C, Liu R, Miller GW, Nussbaum R, Peddada SD, Rick AC, Ritz B, Siderowf AD, Tanner CM, Tröster AI, Zhang J. PMID: 23933572; PMCID: PMC3855519.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    125. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul; 15(7):565-74. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG, American College of Medical Genetics and Genomics. PMID: 23788249; PMCID: PMC3727274.
      View in: PubMed   Mentions: 1158     Fields:    Translation:Humans
    126. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circ Arrhythm Electrophysiol. 2013 Feb; 6(1):177-84. Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N. PMID: 23424222.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansAnimalsCells
    127. Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration. J Clin Invest. 2012 Sep; 122(9):3159-69. Fanara P, Wong PY, Husted KH, Liu S, Liu VM, Kohlstaedt LA, Riiff T, Protasio JC, Boban D, Killion S, Killian M, Epling L, Sinclair E, Peterson J, Price RW, Cabin DE, Nussbaum RL, Brühmann J, Brandt R, Christine CW, Aminoff MJ, Hellerstein MK. PMID: 22922254; PMCID: PMC3428100.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    128. α-Synuclein in human cerebrospinal fluid is principally derived from neurons of the central nervous system. J Neural Transm (Vienna). 2012 Jul; 119(7):739-46. Mollenhauer B, Trautmann E, Otte B, Ng J, Spreer A, Lange P, Sixel-Döring F, Hakimi M, Vonsattel JP, Nussbaum R, Trenkwalder C, Schlossmacher MG. PMID: 22426833; PMCID: PMC3378837.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansCells
    129. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. PMID: 22422049; PMCID: PMC3763716.
      View in: PubMed   Mentions: 90     Fields:    Translation:Humans
    130. Critique of "Evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing". Surgery. 2012 Apr; 151(4):634-7. Nussbaum RL. PMID: 22306835.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    131. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012 Jan 25; 307(4):382-90. Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, Neuhausen S, Gail MH, Hartge P, Peock S, Frost D, Evans DG, Eeles R, Godwin AK, Daly MB, Kwong A, Ma ES, Lázaro C, Blanco I, Montagna M, D'Andrea E, Nicoletto MO, Johnatty SE, Kjær SK, Jensen A, Høgdall E, Goode EL, Fridley BL, Loud JT, Greene MH, Mai PL, Chetrit A, Lubin F, Hirsh-Yechezkel G, Glendon G, Andrulis IL, Toland AE, Senter L, Gore ME, Gourley C, Michie CO, Song H, Tyrer J, Whittemore AS, McGuire V, Sieh W, Kristoffersson U, Olsson H, Borg Å, Levine DA, Steele L, Beattie MS, Chan S, Nussbaum RL, Moysich KB, Gross J, Cass I, Walsh C, Li AJ, Leuchter R, Gordon O, Garcia-Closas M, Gayther SA, Chanock SJ, Antoniou AC, Pharoah PD, EMBRACE, kConFab Investigators, Cancer Genome Atlas Research Network. PMID: 22274685; PMCID: PMC3727895.
      View in: PubMed   Mentions: 275     Fields:    Translation:Humans
    132. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012 Jan; 21(1):134-47. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB, HEBON, Peock S, Frost D, Evans DG, Brewer C, Walker L, Rogers MT, Side LE, Houghton C, EMBRACE, Weaver J, Godwin AK, Schmutzler RK, Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schönbuchner I, Gevensleben H, Stoppa-Lyonnet D, Belotti M, Barjhoux L, GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, de la Hoya M, Cañadas C, Heikkinen T, Heikkilä P, Aittomäki K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont M, Simard J, Montagna M, Agata S, D'Andrea E, Yan M, Fox S, kConFab Investigators, Rebbeck TR, Rubinstein W, Tung N, Garber JE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet MM, Singer CF, Tea MK, Rappaport C, Mai PL, Greene MH, Sokolenko A, Imyanitov E, Toland AE, Senter L, Sweet K, Thomassen M, Gerdes AM, Kruse T, Caligo M, Aretini P, Rantala J, von Wachenfeld A, Henriksson K, SWE-BRCA Collaborators, Steele L, Neuhausen SL, Nussbaum R, Beattie M, Odunsi K, Sucheston L, Gayther SA, Nathanson K, Gross J, Walsh C, Karlan B, Chenevix-Trench G, Easton DF, Antoniou AC, Consortium of Investigators of Modifiers of BRCA1/2. PMID: 22144499; PMCID: PMC3272407.
      View in: PubMed   Mentions: 245     Fields:    Translation:Humans
    133. Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. Am J Med Genet A. 2011 Sep; 155A(9):2229-35. Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE. PMID: 21823217; PMCID: PMC3158811.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansCells
    134. Reply to Professor Lefthériotis et al. Mol Genet Metab. 2011 Jul; 103(3):305. Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. PMID: 21592834.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    135. Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. J Biol Chem. 2011 Jun 10; 286(23):20710-26. Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, Edwards RH. PMID: 21489994; PMCID: PMC3121472.
      View in: PubMed   Mentions: 300     Fields:    Translation:HumansAnimalsCells
    136. Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab. 2011 May; 103(1):44-50. Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. PMID: 21371928; PMCID: PMC3081917.
      View in: PubMed   Mentions: 62     Fields:    Translation:HumansCells
    137. NT5E mutations and arterial calcifications. N Engl J Med. 2011 Feb 03; 364(5):432-42. St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. PMID: 21288095; PMCID: PMC3049958.
      View in: PubMed   Mentions: 220     Fields:    Translation:HumansCells
    138. MutaDATABASE: a centralized and standardized DNA variation database. Nat Biotechnol. 2011 Feb; 29(2):117-8. Bale S, Devisscher M, Van Criekinge W, Rehm HL, Decouttere F, Nussbaum R, Dunnen JT, Willems P. PMID: 21301433.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    139. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol. 2011 Mar; 22(3):443-8. Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. PMID: 21183592; PMCID: PMC3060438.
      View in: PubMed   Mentions: 36     Fields:    Translation:Animals
    140. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome. Mamm Genome. 2010 Oct; 21(9-10):458-66. Bothwell SP, Farber LW, Hoagland A, Nussbaum RL. PMID: 20872266; PMCID: PMC2974198.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    141. QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy. Pacing Clin Electrophysiol. 2011 Dec; 34(12):e105-8. Sung RK, Ursell PC, Rame JE, Bailey H, Caleshu C, Nussbaum RL, Scheinman MM. PMID: 20636320.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    142. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010 May; 8(5):562-94. Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN, National Comprehensive Cancer Network. PMID: 20495085.
      View in: PubMed   Mentions: 102     Fields:    Translation:Humans
    143. Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice. J Clin Invest. 2010 Apr; 120(4):1069-83. Corpe CP, Tu H, Eck P, Wang J, Faulhaber-Walter R, Schnermann J, Margolis S, Padayatty S, Sun H, Wang Y, Nussbaum RL, Espey MG, Levine M. PMID: 20200446; PMCID: PMC2847422.
      View in: PubMed   Mentions: 88     Fields:    Translation:AnimalsCells
    144. X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice. Mamm Genome. 2010 Apr; 21(3-4):186-94. Bernard DJ, Nussbaum RL. PMID: 20195868; PMCID: PMC2844970.
      View in: PubMed   Mentions: 7     Fields:    Translation:Animals
    145. Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. Hum Mol Genet. 2010 May 01; 19(9):1633-50. Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL. PMID: 20106867; PMCID: PMC2850613.
      View in: PubMed   Mentions: 122     Fields:    Translation:HumansAnimals
    146. Addressing the challenges of the clinical application of pharmacogenetic testing. Clin Pharmacol Ther. 2009 Jul; 86(1):28-31. Ikediobi ON, Shin J, Nussbaum RL, Phillips KA, UCSF Center for Translational and Policy Research on Personalized Medicine, Walsh JM, Ladabaum U, Marshall D. PMID: 19536122; PMCID: PMC2910521.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimals
    147. A single nucleotide polymorphism in the 3'UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease. Neurosci Lett. 2009 Sep 18; 461(2):196-201. Sotiriou S, Gibney G, Baxevanis AD, Nussbaum RL. PMID: 19540308; PMCID: PMC2728557.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    148. Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. Hum Mol Genet. 2009 Sep 01; 18(17):3274-85. Cronin KD, Ge D, Manninger P, Linnertz C, Rossoshek A, Orrison BM, Bernard DJ, El-Agnaf OM, Schlossmacher MG, Nussbaum RL, Chiba-Falek O. PMID: 19498036; PMCID: PMC2722989.
      View in: PubMed   Mentions: 57     Fields:    Translation:HumansAnimalsCells
    149. Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. PLoS One. 2009 Jun 03; 4(6):e5777. Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken HH, Becker D, Voos W, Leuner K, Müller WE, Kudin AP, Kunz WS, Zimmermann A, Roeper J, Wenzel D, Jendrach M, García-Arencíbia M, Fernández-Ruiz J, Huber L, Rohrer H, Barrera M, Reichert AS, Rüb U, Chen A, Nussbaum RL, Auburger G. PMID: 19492057; PMCID: PMC2686165.
      View in: PubMed   Mentions: 153     Fields:    Translation:AnimalsCells
    150. Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin. J Gen Intern Med. 2009 May; 24(5):656-64. Kangelaris KN, Bent S, Nussbaum RL, Garcia DA, Tice JA. PMID: 19306050; PMCID: PMC2669873.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    151. Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1. J Inherit Metab Dis. 2009 Apr; 32(2):280-8. Suchy SF, Cronin JC, Nussbaum RL. PMID: 19172411.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    152. Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions. Mol Cell Proteomics. 2008 Nov; 7(11):2123-37. McFarland MA, Ellis CE, Markey SP, Nussbaum RL. PMID: 18614564; PMCID: PMC2577212.
      View in: PubMed   Mentions: 87     Fields:    Translation:HumansAnimalsCells
    153. Mitochondrial translocation of alpha-synuclein is promoted by intracellular acidification. Exp Cell Res. 2008 Jun 10; 314(10):2076-89. Cole NB, Dieuliis D, Leo P, Mitchell DC, Nussbaum RL. PMID: 18440504; PMCID: PMC2483835.
      View in: PubMed   Mentions: 102     Fields:    Translation:HumansCells
    154. Research ethics recommendations for whole-genome research: consensus statement. PLoS Biol. 2008 Mar 25; 6(3):e73. Caulfield T, McGuire AL, Cho M, Buchanan JA, Burgess MM, Danilczyk U, Diaz CM, Fryer-Edwards K, Green SK, Hodosh MA, Juengst ET, Kaye J, Kedes L, Knoppers BM, Lemmens T, Meslin EM, Murphy J, Nussbaum RL, Otlowski M, Pullman D, Ray PN, Sugarman J, Timmons M. PMID: 18366258; PMCID: PMC2270329.
      View in: PubMed   Mentions: 108     Fields:    Translation:Humans
    155. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med. 2008 Feb; 10(2):139-50. Flockhart DA, O'Kane D, Williams MS, Watson MS, Flockhart DA, Gage B, Gandolfi R, King R, Lyon E, Nussbaum R, O'Kane D, Schulman K, Veenstra D, Williams MS, Watson MS, ACMG Working Group on Pharmacogenetic Testing of CYP2C9, VKORC1 Alleles for Warfarin Use. PMID: 18281922.
      View in: PubMed   Mentions: 79     Fields:    Translation:Humans
    156. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 2007; 4(5):386-91. Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. PMID: 17622782.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    157. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene. 2007 Jun 15; 395(1-2):125-34. Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K. PMID: 17442505; PMCID: PMC1950257.
      View in: PubMed   Mentions: 125     Fields:    Translation:HumansAnimalsCells
    158. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. 2007 Mar 13; 68(11):812-9. Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink P, Iwatsubo T, Kosaka K, Lee VM, Leverenz JB, Masliah E, McKeith IG, Nussbaum RL, Olanow CW, Ravina BM, Singleton AB, Tanner CM, Trojanowski JQ, Wszolek ZK, DLB/PDD Working Group. PMID: 17353469.
      View in: PubMed   Mentions: 185     Fields:    Translation:Humans
    159. Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4. Traffic. 2007 May; 8(5):618-28. Loovers HM, Kortholt A, de Groote H, Whitty L, Nussbaum RL, van Haastert PJ. PMID: 17343681.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansAnimalsCells
    160. Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis. 2007 Feb; 25(2):401-11. Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mülsch A, Nussbaum RL, Müller K, Dröse S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G. PMID: 17141510.
      View in: PubMed   Mentions: 79     Fields:    Translation:HumansCells
    161. Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients. Mov Disord. 2006 Oct; 21(10):1703-8. Chiba-Falek O, Lopez GJ, Nussbaum RL. PMID: 16795004.
      View in: PubMed   Mentions: 76     Fields:    Translation:Humans
    162. The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):121-8. Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL. PMID: 16777452.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    163. Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism. Biochemistry. 2006 Jun 06; 45(22):6956-66. Golovko MY, Rosenberger TA, Faergeman NJ, Feddersen S, Cole NB, Pribill I, Berger J, Nussbaum RL, Murphy EJ. PMID: 16734431; PMCID: PMC2532510.
      View in: PubMed   Mentions: 42     Fields:    Translation:AnimalsCells
    164. Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol Cell Biol. 2005 Nov; 25(22):10190-201. Ellis CE, Murphy EJ, Mitchell DC, Golovko MY, Scaglia F, Barceló-Coblijn GC, Nussbaum RL. PMID: 16260631; PMCID: PMC1280279.
      View in: PubMed   Mentions: 132     Fields:    Translation:AnimalsCells
    165. Mining yeast in silico unearths a golden nugget for mitochondrial biology. J Clin Invest. 2005 Oct; 115(10):2689-91. Nussbaum RL. PMID: 16200203; PMCID: PMC1236702.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    166. Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice. J Neurochem. 2005 Aug; 94(3):839-49. Castagnet PI, Golovko MY, Barceló-Coblijn GC, Nussbaum RL, Murphy EJ. PMID: 16033426.
      View in: PubMed   Mentions: 55     Fields:    Translation:AnimalsCells
    167. Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding. Biochemistry. 2005 Jun 14; 44(23):8251-9. Golovko MY, Faergeman NJ, Cole NB, Castagnet PI, Nussbaum RL, Murphy EJ. PMID: 15938614.
      View in: PubMed   Mentions: 56     Fields:    Translation:HumansAnimalsCells
    168. Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype. Nat Neurosci. 2005 May; 8(5):594-6. Meyer-Lindenberg A, Kohn PD, Kolachana B, Kippenhan S, McInerney-Leo A, Nussbaum R, Weinberger DR, Berman KF. PMID: 15821730.
      View in: PubMed   Mentions: 163     Fields:    Translation:HumansCells
    169. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett. 2005 Jul 1-8; 382(1-2):191-4. Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J. PMID: 15911147.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    170. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol. 2005 Mar; 57(3):453-6. Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. PMID: 15732108.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    171. What is special about the "human" in "human genetics"? Am J Hum Genet. 2005 Feb; 76(2):198-202. Nussbaum RL. PMID: 15714685; PMCID: PMC1196361.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    172. Deficiency in the p110alpha subunit of PI3K results in diminished Tie2 expression and Tie2(-/-)-like vascular defects in mice. Blood. 2005 May 15; 105(10):3935-8. Lelievre E, Bourbon PM, Duan LJ, Nussbaum RL, Fong GH. PMID: 15687236; PMCID: PMC1895075.
      View in: PubMed   Mentions: 19     Fields:    Translation:AnimalsCells
    173. Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. Am J Hum Genet. 2005 Mar; 76(3):478-92. Chiba-Falek O, Kowalak JA, Smulson ME, Nussbaum RL. PMID: 15672325; PMCID: PMC1196399.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansCells
    174. Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background. Neurobiol Aging. 2005 Jan; 26(1):25-35. Cabin DE, Gispert-Sanchez S, Murphy D, Auburger G, Myers RR, Nussbaum RL. PMID: 15585343.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansAnimals
    175. Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005 Feb; 76(2):260-7. Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. PMID: 15627218; PMCID: PMC1196371.
      View in: PubMed   Mentions: 134     Fields:    Translation:HumansCells
    176. Structure and dynamics of micelle-bound human alpha-synuclein. J Biol Chem. 2005 Mar 11; 280(10):9595-603. Ulmer TS, Bax A, Cole NB, Nussbaum RL. PMID: 15615727.
      View in: PubMed   Mentions: 421     Fields:    Translation:HumansCells
    177. Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filaments. J Biol Chem. 2005 Mar 11; 280(10):9678-90. Cole NB, Murphy DD, Lebowitz J, Di Noto L, Levine RL, Nussbaum RL. PMID: 15615715.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    178. Parkinsonism among Gaucher disease carriers. J Med Genet. 2004 Dec; 41(12):937-40. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. PMID: 15591280; PMCID: PMC1735652.
      View in: PubMed   Mentions: 147     Fields:    Translation:Humans
    179. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004 Dec; 61(12):1898-904. Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. PMID: 15596610.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansCells
    180. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neurosci Lett. 2005 Feb 21; 374(3):189-91. Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O. PMID: 15663960.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    181. Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation. FEBS Lett. 2004 Oct 08; 576(1-2):9-13. Schmid AC, Wise HM, Mitchell CA, Nussbaum R, Woscholski R. PMID: 15474001.
      View in: PubMed   Mentions: 59     Fields:    Translation:HumansAnimalsCells
    182. Asking fathers: a study of psychosocial adaptation. Haemophilia. 2004 Sep; 10(5):582-9. Herrick EK, Nussbaum R, Holtzman NA, Wissow L. PMID: 15357787.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    183. SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology. 2004 Aug 10; 63(3):554-6. Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. PMID: 15304594.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    184. Genetics and alcoholism among at-risk relatives I: perceptions of cause, risk, and control. Am J Med Genet A. 2004 Jul 15; 128A(2):144-50. Gamm JL, Nussbaum RL, Biesecker BB. PMID: 15214005.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    185. Genetics and alcoholism among at-risk relatives II: interest and concerns about hypothetical genetic testing for alcoholism risk. Am J Med Genet A. 2004 Jul 15; 128A(2):151-5. Gamm JL, Nussbaum RL, Bowles Biesecker B. PMID: 15214006.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansPHPublic Health
    186. Prevalence of Parkinson's disease in populations of African ancestry: a review. J Natl Med Assoc. 2004 Jul; 96(7):974-9. McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL. PMID: 15253330; PMCID: PMC2568420.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    187. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004 May 21; 304(5674):1158-60. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. PMID: 15087508.
      View in: PubMed   Mentions: 1405     Fields:    Translation:HumansAnimalsCells
    188. alpha-Synuclein locus triplication causes Parkinson's disease. Science. 2003 Oct 31; 302(5646):841. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. PMID: 14593171.
      View in: PubMed   Mentions: 1891     Fields:    Translation:HumansCells
    189. Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation. Mol Cell Neurosci. 2003 Oct; 24(2):419-29. Gispert S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G, Nussbaum RL. PMID: 14572463.
      View in: PubMed   Mentions: 85     Fields:    Translation:HumansAnimalsCells
    190. Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet. 2003 Oct; 113(5):426-31. Chiba-Falek O, Touchman JW, Nussbaum RL. PMID: 12923682.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    191. Impaired adrenal catecholamine system function in mice with deficiency of the ascorbic acid transporter (SVCT2). FASEB J. 2003 Oct; 17(13):1928-30. Bornstein SR, Yoshida-Hiroi M, Sotiriou S, Levine M, Hartwig HG, Nussbaum RL, Eisenhofer G. PMID: 12897061.
      View in: PubMed   Mentions: 32     Fields:    Translation:AnimalsCells
    192. Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry. Nat Biotechnol. 2003 Jul; 21(7):813-7. Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum RL, Cline GW, Shulman GI, McMurray W, De Camilli P. PMID: 12808461.
      View in: PubMed   Mentions: 90     Fields:    Translation:AnimalsCells
    193. Alzheimer's disease and Parkinson's disease. N Engl J Med. 2003 Apr 03; 348(14):1356-64. Nussbaum RL, Ellis CE. PMID: 12672864.
      View in: PubMed   Mentions: 401     Fields:    Translation:HumansCells
    194. The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. Genome Res. 2003 Mar; 13(3):485-91. Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum RL, Hunter K, Kelmenson JA, Rowe LB, Brownstein MJ. PMID: 12618379; PMCID: PMC430270.
      View in: PubMed   Mentions: 28     Fields:    Translation:Animals
    195. Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. Mol Genet Metab. 2003 Jan; 78(1):17-30. Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum RL, Pearce DA. PMID: 12559844.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    196. Regulation of alpha-synuclein expression: implications for Parkinson's disease. Cold Spring Harb Symp Quant Biol. 2003; 68:409-15. Chiba-Falek O, Nussbaum RL. PMID: 15338643.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    197. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. 2002 Dec; 71(6):1420-7. Suchy SF, Nussbaum RL. PMID: 12428211; PMCID: PMC378584.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansCells
    198. Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein. J Neurosci. 2002 Oct 15; 22(20):8797-807. Cabin DE, Shimazu K, Murphy D, Cole NB, Gottschalk W, McIlwain KL, Orrison B, Chen A, Ellis CE, Paylor R, Lu B, Nussbaum RL. PMID: 12388586; PMCID: PMC6757677.
      View in: PubMed   Mentions: 372     Fields:    Translation:AnimalsCells
    199. Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. Nat Med. 2002 May; 8(5):514-7. Sotiriou S, Gispert S, Cheng J, Wang Y, Chen A, Hoogstraten-Miller S, Miller GF, Kwon O, Levine M, Guttentag SH, Nussbaum RL. PMID: 11984597.
      View in: PubMed   Mentions: 149     Fields:    Translation:HumansAnimals
    200. Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase. Biol Reprod. 2002 May; 66(5):1522-30. Hellsten E, Bernard DJ, Owens JW, Eckhaus M, Suchy SF, Nussbaum RL. PMID: 11967219.
      View in: PubMed   Mentions: 18     Fields:    Translation:AnimalsCells
    201. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease). Mol Cell Neurosci. 2002 Apr; 19(4):515-27. Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM. PMID: 11988019.
      View in: PubMed   Mentions: 23     Fields:    Translation:AnimalsCells
    202. A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration. Neurosci Lett. 2002 Mar 29; 322(1):57-61. Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, Polymeropoulos MH. PMID: 11958843.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    203. Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase. Mamm Genome. 2002 Mar; 13(3):169-72. Bi L, Okabe I, Bernard DJ, Nussbaum RL. PMID: 11919689.
      View in: PubMed   Mentions: 121     Fields:    Translation:AnimalsCells
    204. Proposed guidelines for papers describing DNA polymorphism-disease associations. Hum Genet. 2002 Mar; 110(3):207-8. Cooper DN, Nussbaum RL, Krawczak M. PMID: 11935332.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    205. Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b. Dev Biol. 2001 Dec 15; 240(2):641-53. Hellsten E, Evans JP, Bernard DJ, Jänne PA, Nussbaum RL. PMID: 11784089.
      View in: PubMed   Mentions: 18     Fields:    Translation:AnimalsCells
    206. Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet. 2001 Dec 15; 10(26):3101-9. Chiba-Falek O, Nussbaum RL. PMID: 11751692.
      View in: PubMed   Mentions: 105     Fields:    Translation:HumansCells
    207. Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein. J Biol Chem. 2002 Feb 22; 277(8):6344-52. Cole NB, Murphy DD, Grider T, Rueter S, Brasaemle D, Nussbaum RL. PMID: 11744721.
      View in: PubMed   Mentions: 201     Fields:    Translation:HumansCells
    208. Transesterification of fatty acid ethoxylates in supercritical methanol, then gas chromatography-mass spectrometric determination of the derived methyl esters, for identification of the initiators. Fresenius J Anal Chem. 2001 Oct; 371(3):369-75. Socher G, Nussbaum R, Rissler K, Lankmayr E. PMID: 11688652.
      View in: PubMed   Mentions:    Fields:    Translation:Cells
    209. High resolution MRI reveals global changes in brains of Cln3 mutant mice. Eur J Paediatr Neurol. 2001; 5 Suppl A:103-7. Greene ND, Lythgoe MF, Thomas DL, Nussbaum RL, Bernard DJ, Mitchison HM. PMID: 11588978.
      View in: PubMed   Mentions: 6     Fields:    Translation:Animals
    210. Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res. 2001 Jan; 11(1):78-86. Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL. PMID: 11156617; PMCID: PMC311023.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansAnimalsCells
    211. Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter. DNA Res. 2000 Dec 31; 7(6):339-45. Gispert S, Dutra A, Lieberman A, Friedlich D, Nussbaum RL. PMID: 11214969.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    212. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18; 95(5):461-6. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. PMID: 11146467.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    213. alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases. J Biol Chem. 2001 Feb 09; 276(6):3879-84. Ellis CE, Schwartzberg PL, Grider TL, Fink DW, Nussbaum RL. PMID: 11078745.
      View in: PubMed   Mentions: 56     Fields:    Translation:Cells
    214. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb; 48(2):179-90. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. PMID: 10639484.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimalsCells
    215. Neurodegeneration in the polyglutamine diseases: Act 1, Scene 1. Nat Neurosci. 2000 Feb; 3(2):103-4. Nussbaum R, Auburger G. PMID: 10649562.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    216. Asking women to see nurses or unfamiliar physicians as part of primary care redesign. Am J Manag Care. 2000 Feb; 6(2):187-99. Thompson M, Nussbaum R. PMID: 10977419.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    217. An HMO survey on mass customization of healthcare delivery for women. Womens Health Issues. 2000 Jan-Feb; 10(1):10-9. Thompson M, Nussbaum R. PMID: 10697464.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    218. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. Neurobiol Dis. 1999 Oct; 6(5):321-34. Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL. PMID: 10527801.
      View in: PubMed   Mentions: 75     Fields:    Translation:HumansAnimalsCells
    219. Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinase. J Biol Chem. 1999 Apr 16; 274(16):10963-8. Bi L, Okabe I, Bernard DJ, Wynshaw-Boris A, Nussbaum RL. PMID: 10196176.
      View in: PubMed   Mentions: 145     Fields:    Translation:AnimalsCells
    220. A murine model for juvenile NCL: gene targeting of mouse Cln3. Mol Genet Metab. 1999 Apr; 66(4):309-13. Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. PMID: 10191119.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimals
    221. Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain. J Biol Chem. 1999 Jan 29; 274(5):2953-62. Bascom RA, Srinivasan S, Nussbaum RL. PMID: 9915833.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimalsCells
    222. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. 1999 Jan; 106(1):119-22. Lin T, Lewis RA, Nussbaum RL. PMID: 9917791.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    223. Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease. DNA Res. 1998 Dec 31; 5(6):401-2. Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, Ulm G, Vasconcelos J, Vilchez JJ, Nussbaum RL, Polymeropoulos MH. PMID: 10048491.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    224. Genomic organization and expression of the human beta-synuclein gene (SNCB). Genomics. 1998 Nov 15; 54(1):173-5. Lavedan C, Leroy E, Torres R, Dehejia A, Dutra A, Buchholtz S, Nussbaum RL, Polymeropoulos MH. PMID: 9806846.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    225. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn. 1998 Nov; 18(11):1117-21. Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum RL. PMID: 9854717.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    226. Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease. Mol Psychiatry. 1998 Nov; 3(6):493-9. Mezey E, Dehejia AM, Harta G, Tresser N, Suchy SF, Nussbaum RL, Brownstein MJ, Polymeropoulos MH. PMID: 9857974.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansCells
    227. Identification, localization and characterization of the human gamma-synuclein gene. Hum Genet. 1998 Jul; 103(1):106-12. Lavedan C, Leroy E, Dehejia A, Buchholtz S, Dutra A, Nussbaum RL, Polymeropoulos MH. PMID: 9737786.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansCells
    228. Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics. 1998 Jun 01; 50(2):229-40. Lavedan C, Grabczyk E, Usdin K, Nussbaum RL. PMID: 9653650.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    229. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest. 1998 May 15; 101(10):2042-53. Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL. PMID: 9593760; PMCID: PMC508792.
      View in: PubMed   Mentions: 73     Fields:    Translation:HumansAnimalsCells
    230. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab. 1998 May; 64(1):58-61. Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL. PMID: 9682219.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    231. Putting the parkin into Parkinson's. Nature. 1998 Apr 09; 392(6676):544-5. Nussbaum RL. PMID: 9560145.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    232. Contig map of the Parkinson's disease region on 4q21-q23. DNA Res. 1998 Feb 28; 5(1):19-23. Lavedan C, Dehejia A, Pike B, Dutra A, Leroy E, Ide SE, Root H, Rubenstein J, Boyer RL, Chandrasekharappa S, Makalowska I, Nussbaum RL, Polymeropoulos MH. PMID: 9628579.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    233. Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis. Eur J Cell Biol. 1997 Dec; 74(4):350-60. Srinivasan S, Seaman M, Nemoto Y, Daniell L, Suchy SF, Emr S, De Camilli P, Nussbaum R. PMID: 9438131.
      View in: PubMed   Mentions: 39     Fields:    Translation:AnimalsCells
    234. Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice. Hum Genet. 1997 Sep; 100(3-4):407-14. Lavedan CN, Garrett L, Nussbaum RL. PMID: 9272164.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    235. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997 Jun 27; 276(5321):2045-7. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. PMID: 9197268.
      View in: PubMed   Mentions: 2849     Fields:    Translation:HumansAnimalsCells
    236. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997 Jun; 60(6):1384-8. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL. PMID: 9199559; PMCID: PMC1716142.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    237. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb; 99(2):145-50. Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC. PMID: 9048911.
      View in: PubMed   Mentions: 28     Fields:    Translation:AnimalsCells
    238. Genetics of Parkinson's disease. Hum Mol Genet. 1997; 6(10):1687-91. Nussbaum RL, Polymeropoulos MH. PMID: 9300660.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    239. Regulation of taurocholate and ursodeoxycholate uptake in hamster hepatocytes by Ca(2+)-mobilizing agents. Am J Physiol. 1996 Dec; 271(6 Pt 1):G1084-95. Bouscarel B, Reza S, Dougherty LA, Fromm H, Nussbaum R. PMID: 8997253.
      View in: PubMed   Mentions: 2     Fields:    Translation:Animals
    240. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science. 1996 Nov 15; 274(5290):1197-9. Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC. PMID: 8895469.
      View in: PubMed   Mentions: 179     Fields:    Translation:HumansCells
    241. Cognitive deficits in a murine model of the eosinophilia-myalgia syndrome: a preliminary report. Neurotoxicol Teratol. 1996 Sep-Oct; 18(5):595-601. Middaugh LD, Nussbaum R, Ludwicka A, Bolster MB, Silver RM. PMID: 8888024.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    242. Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene. Genomics. 1995 Nov 20; 30(2):358-60. Okabe I, Nussbaum RL. PMID: 8586440.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    243. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J. 1995 Nov 01; 14(21):5358-66. Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, Dreyfuss G. PMID: 7489725; PMCID: PMC394645.
      View in: PubMed   Mentions: 126     Fields:    Translation:HumansAnimalsCells
    244. Nondisjunction rates and abnormal embryonic development in a mouse cross between heterozygotes carrying a (7, 18) robertsonian translocation chromosome. Genetics. 1995 Oct; 141(2):667-74. Oakey RJ, Matteson PG, Litwin S, Tilghman SM, Nussbaum RL. PMID: 8647401; PMCID: PMC1206764.
      View in: PubMed   Mentions: 6     Fields:    Translation:Animals
    245. The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet. 1995 Oct; 57(4):817-23. Olivos-Glander IM, Jänne PA, Nussbaum RL. PMID: 7573041; PMCID: PMC1801524.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansAnimalsCells
    246. Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Hum Mol Genet. 1995 Aug; 4(8):1465-6. May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C. PMID: 7581391.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    247. Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. Genomics. 1995 Jul 20; 28(2):280-5. Jänne PA, Rochelle JM, Martin-DeLeon PA, Stambolian D, Seldin MF, Nussbaum RL. PMID: 8530037.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    248. FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J. 1995 Jun 01; 14(11):2401-8. Siomi MC, Siomi H, Sauer WH, Srinivasan S, Nussbaum RL, Dreyfuss G. PMID: 7781595; PMCID: PMC398353.
      View in: PubMed   Mentions: 82     Fields:    Translation:HumansAnimalsCells
    249. Isolation and regional mapping of 110 chromosome 22 STSs. Genomics. 1994 Dec; 24(3):588-92. Hudson TJ, Colbert AM, Reeve MP, Bae JS, Lee MK, Nussbaum RL, Budarf ML, Emanuel BS, Foote S. PMID: 7713513.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    250. Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell. 1994 Apr 08; 77(1):33-9. Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G. PMID: 8156595.
      View in: PubMed   Mentions: 142     Fields:    Translation:HumansCells
    251. Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet Cell Genet. 1994; 66(3):164-6. Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum RL. PMID: 8125013.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    252. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell. 1993 Jul 30; 74(2):291-8. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. PMID: 7688265.
      View in: PubMed   Mentions: 215     Fields:    Translation:HumansCells
    253. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 1993 Apr; 2(4):461-3. Leahey AM, Charnas LR, Nussbaum RL. PMID: 8504307.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    254. Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region. Genomics. 1993 Mar; 15(3):500-6. Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum RL. PMID: 8468044.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    255. Report of the third international workshop on human chromosome 22 mapping. Cytogenet Cell Genet. 1993; 63(4):206-11. Emanuel BS, Buetow K, Nussbaum R, Scambler P, Lipinski M, Overton GC. PMID: 8099004.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    256. Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. Nucleic Acids Res. 1992 Sep 11; 20(17):4649-55. Okabe I, Bailey LC, Attree O, Srinivasan S, Perkel JM, Laurent BC, Carlson M, Nelson DL, Nussbaum RL. PMID: 1408766; PMCID: PMC334196.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    257. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16; 358(6383):239-42. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. PMID: 1321346.
      View in: PubMed   Mentions: 156     Fields:    Translation:HumansCells
    258. Dual developments in diabetes. Nat Genet. 1992 May; 1(2):82-3. Spielman RS, Nussbaum RL. PMID: 1302013.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    259. Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. Am J Hum Genet. 1992 Apr; 50(4):742-8. Puck JM, Stewart CC, Nussbaum RL. PMID: 1550118; PMCID: PMC1682632.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    260. Isolation of a candidate gene for choroideremia. Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6):2135-9. Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL. PMID: 1549574; PMCID: PMC48611.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    261. Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation. Genomics. 1992 Mar; 12(3):526-33. Lee JT, Murgia A, Sosnoski DM, Olivos IM, Nussbaum RL. PMID: 1559703.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    262. Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes. J Inherit Metab Dis. 1992; 15(4):526-31. Okabe I, Attree O, Bailey LC, Nelson DL, Nussbaum RL. PMID: 1528013.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    263. Linkage analysis in X-linked ocular albinism. Genomics. 1991 Apr; 9(4):605-13. Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA. PMID: 1674724.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    264. In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. Am J Hum Genet. 1991 Feb; 48(2):183-94. Montanaro V, Casamassimi A, D'Urso M, Yoon JY, Freije W, Schlessinger D, Muenke M, Nussbaum RL, Saccone S, Maugeri S, et al. PMID: 1990831; PMCID: PMC1683000.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    265. Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation. Am J Med Genet. 1990 Nov; 37(3):429-30. Reilly DS, Nussbaum RL. PMID: 2260578.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    266. Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. Genomics. 1990 Oct; 8(2):255-62. Schnur RE, Knowlton RG, Musarella MA, Muenke M, Nussbaum RL. PMID: 1979048.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    267. Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. Genomics. 1990 Sep; 8(1):62-70. Reilly DS, Lewis RA, Nussbaum RL. PMID: 2081601.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    268. Linkage studies and deletion screening in choroideremia. J Med Genet. 1990 Aug; 27(8):496-8. Wright AF, Nussbaum RL, Bhattacharya SS, Jay M, Lesko JG, Evans HJ, Jay B. PMID: 1976814; PMCID: PMC1017197.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    269. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet. 1990 Jul; 47(1):13-9. Stambolian D, Lewis RA, Buetow K, Bond A, Nussbaum R. PMID: 1971992; PMCID: PMC1683770.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    270. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr. 1990 Jun; 116(6):911-7. Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. PMID: 1971852.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    271. DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. Genomics. 1990 Apr; 6(4):609-15. Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum RL. PMID: 2341150.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    272. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1990; 55(1-4):254-313. Davies KE, Mandel JL, Monaco AP, Nussbaum RL, Willard HF. PMID: 2073838.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    273. Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. Cytometry. 1990; 11(1):184-95. Trask B, van den Engh G, Nussbaum R, Schwartz C, Gray J. PMID: 2106419.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    274. Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. Ophthalmology. 1990 Jan; 97(1):110-20; discussion 120-1. Lewis RA, Nussbaum RL, Stambolian D. PMID: 1969135.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    275. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. J Clin Invest. 1989 Dec; 84(6):1762-6. Lee JT, Nussbaum RL. PMID: 2556444; PMCID: PMC304053.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    276. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet. 1989 Nov; 45(5):706-20. Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL. PMID: 2573275; PMCID: PMC1683435.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    277. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet. 1989 Oct; 45(4):530-40. Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL. PMID: 2491012; PMCID: PMC1683514.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    278. RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP. Nucleic Acids Res. 1989 Sep 25; 17(18):7551. Smead DL, Nussbaum RL, Puck JM. PMID: 2571982; PMCID: PMC334861.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    279. Detection of translocation breakpoints by pulsed field gel analysis: practical considerations. Nucleic Acids Res. 1989 Jul 11; 17(13):5414. Reilly DS, Sosnoski DM, Nussbaum RL. PMID: 2762143; PMCID: PMC318153.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    280. Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet. 1989 Jul; 82(4):354-8. Skare JC, Grierson HL, Sullivan JL, Nussbaum RL, Purtilo DT, Sylla BS, Lenoir GM, Reilly DS, White BN, Milunsky A. PMID: 2567696.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    281. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Cell. 1989 Jun 30; 57(7):1247-58. Schneider-Gädicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC. PMID: 2500252.
      View in: PubMed   Mentions: 74     Fields:    Translation:HumansCells
    282. X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am J Hum Genet. 1989 May; 44(5):724-30. Puck JM, Nussbaum RL, Smead DL, Conley ME. PMID: 2565084; PMCID: PMC1715634.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    283. Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier. Genomics. 1989 May; 4(4):601-5. Musarella MA, Anson-Cartwright L, Burghes A, Worton RG, Lesko JG, Nussbaum RL. PMID: 2568332.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    284. New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. Am J Hum Genet. 1989 Feb; 44(2):248-54. Schnur RE, Ledbetter SA, Ledbetter DH, Merry DE, Nussbaum RL. PMID: 2563194; PMCID: PMC1715401.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    285. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1989; 51(1-4):384-437. Mandel JL, Willard HF, Nussbaum RL, Romeo G, Puck JM, Davies KE. PMID: 2676379.
      View in: PubMed   Mentions: 64     Fields:    Translation:HumansCells
    286. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics. 1989 Jan; 4(1):41-6. Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH. PMID: 2914708.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    287. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med. 1988 Oct 13; 319(15):999-1003. Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL. PMID: 2843770.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    288. Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. J Clin Invest. 1988 Oct; 82(4):1353-8. Maddalena A, Spence JE, O'Brien WE, Nussbaum RL. PMID: 3170748; PMCID: PMC442691.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    289. Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa. J Clin Invest. 1988 Jun; 81(6):1993-8. Sosnoski DM, Emanuel BS, Hawkins AL, van Tuinen P, Ledbetter DH, Nussbaum RL, Kaos FT, Schwartz E, Phillips D, Bennett JS, et al. PMID: 2454952; PMCID: PMC442653.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    290. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet. 1988 May; 42(5):748-55. Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL. PMID: 2895982; PMCID: PMC1715172.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    291. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1988; 49(1-3):107-28. Mandel JL, Willard HF, Nussbaum RL, Davies KE, Romeo G. PMID: 2904879.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    292. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A. 1987 Sep; 84(18):6521-5. Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH. PMID: 3476958; PMCID: PMC299109.
      View in: PubMed   Mentions: 32     Fields:    Translation:HumansCells
    293. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest. 1987 May; 79(5):1395-400. Puck JM, Nussbaum RL, Conley ME. PMID: 2883199; PMCID: PMC424401.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    294. Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. Am J Hum Genet. 1987 Apr; 40(4):303-11. Lesko JG, Lewis RA, Nussbaum RL. PMID: 2883887; PMCID: PMC1684091.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    295. Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia. Oncogene. 1987; 1(3):319-22. van Tuinen P, Johnson KR, Ledbetter SA, Nussbaum RL, Rovera G, Ledbetter DH. PMID: 2838781.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    296. Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest. 1987 Jan; 79(1):282-5. Silver DN, Lewis RA, Nussbaum RL. PMID: 2878939; PMCID: PMC424043.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    297. RFLP locus DXS42 is proximal to the locus for hypoxanthine phosphoribosyltransferase. Am J Hum Genet. 1986 Nov; 39(5):669-70. Lesko JG, Nussbaum RL. PMID: 2878611; PMCID: PMC1684049.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    298. Implications of fragile X expression in normal males for the nature of the mutation. Nature. 1986 Nov 13-19; 324(6093):161-3. Ledbetter DH, Ledbetter SA, Nussbaum RL. PMID: 3785381.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    299. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet. 1986 Feb; 38(2):149-58. Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE. PMID: 3004207; PMCID: PMC1684765.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    300. Fragile X syndrome: a unique mutation in man. Annu Rev Genet. 1986; 20:109-45. Nussbaum RL, Ledbetter DH. PMID: 3545058.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    301. Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis. Am J Med Genet. 1986 Jan-Feb; 23(1-2):715-21. Nussbaum RL, Airhart SD, Ledbetter DH. PMID: 3456708.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    302. A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. Am J Med Genet. 1986 Jan-Feb; 23(1-2):457-66. Nussbaum RL, Airhart SD, Ledbetter DH. PMID: 2937300.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    303. Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. Am J Med Genet. 1986 Jan-Feb; 23(1-2):429-43. Ledbetter DH, Airhart SD, Nussbaum RL. PMID: 2937298.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    304. Caffeine enhances fragile (X) expression in somatic cell hybrids. Am J Med Genet. 1986 Jan-Feb; 23(1-2):445-55. Ledbetter DH, Airhart SD, Nussbaum RL. PMID: 2937299.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    305. Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression. Am J Hum Genet. 1985 Nov; 37(6):1192-205. Nussbaum RL, Walmsley RM, Lesko JG, Airhart SD, Ledbetter DH. PMID: 3002173; PMCID: PMC1684722.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    306. Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet. 1985 Sep; 37(5):947-55. Cantú ES, Nussbaum RL, Airhart SD, Ledbetter DH. PMID: 2931977; PMCID: PMC1684697.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    307. Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1985 Jul; 61(1):89-97. Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI. PMID: 3873469.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    308. Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24. Ophthalmology. 1985 Jun; 92(6):800-6. Lewis RA, Nussbaum RL, Ferrell R. PMID: 4034175.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    309. Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. Am J Hum Genet. 1985 May; 37(3):473-81. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R. PMID: 2988333; PMCID: PMC1684597.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    310. Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia. Ann N Y Acad Sci. 1985; 458:111-29. Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI. PMID: 3879117.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    311. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet. 1985; 70(1):45-50. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R. PMID: 3858218.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    312. Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter. Somat Cell Mol Genet. 1984 Nov; 10(6):607-13. Boggs BA, Nussbaum RL. PMID: 6095463.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    313. Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet. 1984 Sep; 10(5):483-93. Patel PI, Nussbaum RL, gramson PE, Ledbetter DH, Caskey CT, Chinault AC. PMID: 6089358.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    314. Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet. 1984 Sep; 36(5):954-64. Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL. PMID: 6093508; PMCID: PMC1684515.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    315. The Gardner syndrome. Significance of ocular features. Ophthalmology. 1984 Aug; 91(8):916-25. Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE. PMID: 6493700.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    316. Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm. Hum Genet. 1984; 65(3):295-9. Purrello M, Nussbaum R, Rinaldi A, Filippi G, Traccis S, Latte B, Siniscalco M. PMID: 6321326.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    317. Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene. Adv Exp Med Biol. 1984; 165 Pt A:411-5. Chinault AC, Brennand J, Konecki DS, Nussbaum RL, Caskey CT. PMID: 6326485.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    318. Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis. J Clin Invest. 1983 Sep; 72(3):767-72. Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN. PMID: 6309910; PMCID: PMC1129241.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    319. A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A. 1983 Jul; 80(13):4035-9. Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT. PMID: 6306659; PMCID: PMC394195.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    320. Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr. 1983 Apr; 102(4):552-8. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. PMID: 6834189.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
    321. Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Hum Genet. 1983; 64(2):148-50. Nussbaum RL, Airhart SD, Ledbetter DH. PMID: 6885049.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansAnimalsCells
    322. Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae. Biochemistry. 1981 Aug 04; 20(16):4584-90. Nussbaum RL, Caskey CT. PMID: 6170313.
      View in: PubMed   Mentions: 4     Fields:    Translation:Animals
    323. Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation. Clin Genet. 1980 Nov; 18(5):329-41. Caskey CT, Nussbaum RL, Cohan LC, Pollack L. PMID: 7460369.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    324. Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance. J Pediatr Ophthalmol. 1976 Mar; 13(2):89-98. Nussbaum R, Puck J. PMID: 1018187.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
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