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Robert Nussbaum, MD

Title(s)Clinical Professor, Medicine
SchoolSchool of Medicine
Phone415-885-7779
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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 Research 
    Collapse Research Activities and Funding
    Clinical Genome Resource
    NIH/NHGRI U41HG006834Sep 23, 2013 - Jul 31, 2021
    Role: Co-Principal Investigator
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH/NICHD U19HD077627Sep 5, 2013 - Aug 31, 2019
    Role: Co-Principal Investigator
    Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy
    NIH/NIDDK R01DK087728Apr 1, 2012 - Feb 28, 2015
    Role: Principal Investigator
    Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy
    NIH/NIDDK R56DK087728Sep 30, 2010 - Sep 29, 2011
    Role: Principal Investigator
    GI Endotoxin as an Environmental Trigger in an alpha-Synuclein Transgenic Mouse
    NIH/NIEHS R01ES017793Jul 6, 2010 - Jun 30, 2014
    Role: Principal Investigator
    Glucocerebrosidase mutations in a mouse synucleinopathy model
    NIH/NIA R33AG033941Mar 1, 2009 - Mar 31, 2012
    Role: Principal Investigator
    Glucocerebrosidase mutations in a mouse synucleinopathy model
    NIH/NIA R21AG033941Mar 1, 2009 - Feb 29, 2012
    Role: Principal Investigator
    POSTDOCTORAL TRAINING IN MOLECULAR GENETIC RESEARCH
    NIH/NIGMS T32GM008252Jul 1, 1988 - Aug 31, 1993
    Role: Principal Investigator
    MOLECULAR GENETIC ANALYSIS OF LOWE'S SYNDROME
    NIH/NICHD R01HD023245Sep 1, 1987 - Aug 31, 1996
    Role: Co-Principal Investigator
    ISOLATING THE GENE FOR CHOROIDEREMIA
    NIH/NEI R01EY006566Apr 1, 1987 - Mar 31, 1995
    Role: Principal Investigator
    MOLECULAR ANALYSIS OF FRAGILE X IN SOMATIC CELL HYBRIDS
    NIH/NICHD R01HD020227Sep 1, 1984 - Jun 30, 1988
    Role: Principal Investigator
    The Lowe Oculocerebrorenal Syndrome
    NIH/NHGRI Z01HG000040
    Role: Principal Investigator
    MICE DEFECTIVE IN PHOSPHATIDYLINOSITOL SIGNALING
    NIH/NHGRI Z01HG000041
    Role: Principal Investigator
    TRIPLET REPEAT AMPLIFICATION IN THE FRAGILE X SYNDROME
    NIH/NHGRI Z01HG000042
    Role: Principal Investigator
    Outcomes of Education and Counseling for HNPCC Testing
    NIH/NHGRI Z01HG000059
    Role: Co-Principal Investigator
    MUTATION ANALYSIS IN PATIENTS WITH LOWE OCULOCEREBRORENAL SYNDROME
    NIH/NHGRI Z01HG000067
    Role: Principal Investigator
    Genetics of Parkinson's Disease
    NIH/NHGRI Z01HG000117
    Role: Principal Investigator
    MOUSE MODEL FOR BATTEN'S DISEASE
    NIH/NHGRI Z01HG000141
    Role: Principal Investigator
    Batten disease
    NIH/NHGRI Z01HG000168
    Role: Principal Investigator
    Studies on mouse vit C transporter
    NIH/NHGRI Z01HG000169
    Role: Principal Investigator
    Positional cloning of autosomal dominant Fanconi Syndrom
    NIH/NHGRI Z01HG000184
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Websites
    Collapse In The News
    Collapse Featured Videos

    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.
    List All   |   Timeline
    1. 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, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindström S. Publisher Correction: Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019 Sep 23; 10(1):4386. PMID: 31548585.
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    2. Sartor O, Nicolosi P, Nussbaum RL. Germline Variants in Highly Selected Patients With Prostate Cancer-In Reply. JAMA Oncol. 2019 Jul 11. PMID: 31294747.
      View in: PubMed
    3. 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. 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. PMID: 31440721.
      View in: PubMed
    4. Nussbaum RL, Haverfield E, Esplin ED, Aradhya S. 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 Jun 26. PMID: 31239557.
      View in: PubMed
    5. 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. OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. Hum Mol Genet. 2019 Jun 15; 28(12):1931-1946. PMID: 30590522.
      View in: PubMed
    6. Wulczyn K, Perez-Reyes E, Nussbaum RL, Park M. Primary aldosteronism associated with a germline variant in CACNA1H. BMJ Case Rep. 2019 May 23; 12(5). PMID: 31126930.
      View in: PubMed
    7. Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O'Leary E, Esplin ED, Nussbaum RL, Sartor O. Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines. JAMA Oncol. 2019 Apr 01; 5(4):523-528. PMID: 30730552.
      View in: PubMed
    8. 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, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D. 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 Apr 01; 111(4):350-364. PMID: 30312457.
      View in: PubMed
    9. 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. Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circ Heart Fail. 2019 Mar; 12(3):e005371. PMID: 30871351.
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    10. Kuo YM, Nwankwo EI, Nussbaum RL, Rogers J, Maccecchini ML. Translational inhibition of a-synuclein by Posiphen normalizes distal colon motility in transgenic Parkinson mice. Am J Neurodegener Dis. 2019; 8(1):1-15. PMID: 30906671.
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    11. 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, Wu AH, Wu X, Yannoukakos D, Zheng W, Zienolddiny S, Ziogas A, Zorn KK, Lane JM, Saxena R, Thomas D, Hung RJ, Diergaarde B, McKay J, Peters U, Hsu L, García-Closas M, Eeles RA, Chenevix-Trench G, Brennan PJ, Haiman CA, Simard J, Easton DF, Gruber SB, Pharoah PDP, Price AL, Pasaniuc B, Amos CI, Kraft P, Lindström S. Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019 01 25; 10(1):431. PMID: 30683880.
      View in: PubMed
    12. Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS. 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 Mar; 21(2):318-329. PMID: 30610921.
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    13. Nussbaum RL. Letter to the Editor. J Parkinsons Dis. 2019; 9(2):445. PMID: 31127733.
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    14. Blanco AM, Topper S, Nussbaum RL. Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6. JAMA Oncol. 2019 Jan 01; 5(1):120-121. PMID: 30629138.
      View in: PubMed
    15. 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, Burn J, Chanock S, Rätsch G, Spurdle AB. BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet. 2018 12; 14(12):e1007752. PMID: 30586411.
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    16. 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. Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? J Clin Oncol. 2019 Feb 20; 37(6):453-460. PMID: 30526229.
      View in: PubMed
    17. Biesecker LG, Nussbaum RL, Rehm HL. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA. 2018 Nov 13; 320(18):1929-1930. PMID: 30326012.
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    18. Esplin ED, Haverfield E, Yang S, Aradhya S, Nussbaum RL. Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine. Genet Med. 2019 05; 21(5):1250-1251. PMID: 30245515.
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    19. Iacoboni D, Lynch K, Esplin ED, Nussbaum RL. Conflicts of interest in genetic counseling: addressing and delivering. Genet Med. 2018 09; 20(9):1094-1095. PMID: 29300370.
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    20. Yang S, Axilbund JE, O'Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum RL. 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. PMID: 29998407.
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    21. Park M, Nussbaum RL. Recurrent Renal Cysts in a Transplanted Kidney. Ann Intern Med. 2018 11 06; 169(9):657-658. PMID: 29971405.
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    22. Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. Genet Med. 2019 01; 21(1):114-123. PMID: 29895855.
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    23. Nussbaum RL. Genetics of Synucleinopathies. Cold Spring Harb Perspect Med. 2018 06 01; 8(6). PMID: 28213435.
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    24. Aradhya S, Nussbaum RL. Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. Mol Genet Genomic Med. 2018 May 28. PMID: 29807392.
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    25. Kidambi TD, Goldberg D, Nussbaum R, Blanco A, Umetsu SE, Terdiman JP, Lee JK. 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. PMID: 29766397.
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    145. Hellsten E, Bernard DJ, Owens JW, Eckhaus M, Suchy SF, Nussbaum RL. 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. PMID: 11967219.
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    161. Bascom RA, Srinivasan S, Nussbaum RL. 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. PMID: 9915833.
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    179. Okabe I, Nussbaum RL. Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene. Genomics. 1995 Nov 20; 30(2):358-60. PMID: 8586440.
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    183. Jänne PA, Rochelle JM, Martin-DeLeon PA, Stambolian D, Seldin MF, Nussbaum RL. 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. PMID: 8530037.
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    185. Hudson TJ, Colbert AM, Reeve MP, Bae JS, Lee MK, Nussbaum RL, Budarf ML, Emanuel BS, Foote S. Isolation and regional mapping of 110 chromosome 22 STSs. Genomics. 1994 Dec; 24(3):588-92. PMID: 7713513.
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    186. Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G. 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. PMID: 8156595.
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    189. Leahey AM, Charnas LR, Nussbaum RL. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 1993 Apr; 2(4):461-3. PMID: 8504307.
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    190. Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum RL. Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region. Genomics. 1993 Mar; 15(3):500-6. PMID: 8468044.
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    191. Okabe I, Bailey LC, Attree O, Srinivasan S, Perkel JM, Laurent BC, Carlson M, Nelson DL, Nussbaum RL. 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. PMID: 1408766.
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    193. Spielman RS, Nussbaum RL. Dual developments in diabetes. Nat Genet. 1992 May; 1(2):82-3. PMID: 1302013.
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    194. Puck JM, Stewart CC, Nussbaum RL. 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. PMID: 1550118.
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    195. Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL. Isolation of a candidate gene for choroideremia. Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6):2135-9. PMID: 1549574.
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    196. Lee JT, Murgia A, Sosnoski DM, Olivos IM, Nussbaum RL. 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. PMID: 1559703.
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