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Robert Nussbaum, MD

TitleClinical Professor
InstitutionUniversity of California San Francisco
DepartmentMedicine
Address513 Parnassus Ave
San Francisco CA 94143
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, 2018
    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. Yang S, Axilbund JE, O'Leary E, Michalski ST, Evans R, Lincoln SE, Esplin ED, Nussbaum R. Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark. Ann Surg Oncol. 2018 Jul 11. PMID: 29998407.
      View in: PubMed
    2. Park M, Nussbaum R. Recurrent Renal Cysts in a Transplanted Kidney. Ann Intern Med. 2018 Jul 03. PMID: 29971405.
      View in: PubMed
    3. Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum R, Aradhya S. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. Genet Med. 2018 Jun 12. PMID: 29895855.
      View in: PubMed
    4. Aradhya S, Nussbaum R. Genetics in mainstream medicine: Finally within grasp to influence healthcare globally. Mol Genet Genomic Med. 2018 May 28. PMID: 29807392.
      View in: PubMed
    5. 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 May 15. PMID: 29766397.
      View in: PubMed
    6. 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. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 Feb 15. PMID: 29446198.
      View in: PubMed
    7. Iacoboni D, Lynch K, Esplin ED, Nussbaum R. Conflicts of interest in genetic counseling: addressing and delivering. Genet Med. 2018 Jan 04. PMID: 29300370.
      View in: PubMed
    8. Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum R, Prabhu SA, Boucher KM, Biesecker LG. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med. 2018 Jan 04. PMID: 29300386.
      View in: PubMed
    9. 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. A framework for exhaustively mapping functional missense variants. Mol Syst Biol. 2017 Dec 21; 13(12):957. PMID: 29269382.
      View in: PubMed
    10. Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum R, Topper S. Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar. Genet Med. 2018 Feb; 20(2):282. PMID: 29215652.
      View in: PubMed
    11. 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. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet. 2017 Dec; 49(12):1767-1778. PMID: 29058716.
      View in: PubMed
    12. Chandra R, Hiniker A, Kuo YM, Nussbaum R, Liddle RA. a-Synuclein in gut endocrine cells and its implications for Parkinson's disease. JCI Insight. 2017 Jun 15; 2(12). PMID: 28614796.
      View in: PubMed
    13. Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum R, Topper S. Sources of discordance among germ-line variant classifications in ClinVar. Genet Med. 2017 Oct; 19(10):1118-1126. PMID: 28569743.
      View in: PubMed
    14. Tomlinson JJ, Shutinoski B, Dong L, Meng F, Elleithy D, Lengacher NA, Nguyen AP, Cron GO, Jiang Q, Roberson ED, Nussbaum R, Majbour NK, El-Agnaf OM, Bennett SA, Lagace DC, Woulfe JM, Sad S, Brown EG, Schlossmacher MG. Holocranohistochemistry enables the visualization of a-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects. J Neural Transm (Vienna). 2017 Jun; 124(6):721-738. PMID: 28477284.
      View in: PubMed
    15. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum R, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2017 05; 19(5):606. PMID: 28492529.
      View in: PubMed
    16. Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum R. Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories. JCO Precis Oncol. 2017 Jul; 1. PMID: 28782058.
      View in: PubMed
    17. 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. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017 May; 49(5):680-691. PMID: 28346442.
      View in: PubMed
    18. 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 R, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell. 2017 Mar 23; 169(1):6-12. PMID: 28340351.
      View in: PubMed
    19. Nussbaum R. Genetics of Synucleinopathies. Cold Spring Harb Perspect Med. 2017 Feb 17. PMID: 28213435.
      View in: PubMed
    20. Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT. 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. PMID: 28145423.
      View in: PubMed
    21. Nussbaum R, Yang S, Lincoln SE. 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 Apr 10; 35(11):1259-1261. PMID: 28135136.
      View in: PubMed
    22. Nussbaum R. The Identification of Alpha-Synuclein as the First Parkinson Disease Gene. J Parkinsons Dis. 2017; 7(s1):S45-S51. PMID: 28282812.
      View in: PubMed
    23. Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S. Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. J Am Soc Nephrol. 2017 May; 28(5):1399-1407. PMID: 27895154.
      View in: PubMed
    24. 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. 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. PMID: 27836010.
      View in: PubMed
    25. 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. 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. PMID: 27796716.
      View in: PubMed
    26. 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. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nat Commun. 2016 Sep 07; 7:12675. PMID: 27601076; PMCID: PMC5023955.
    27. 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. 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. PMID: 27459855; PMCID: PMC4962376.
    28. 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. The BRCA1-?11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin. Cancer Res. 2016 05 01; 76(9):2778-90. PMID: 27197267; PMCID: PMC4874568 [Available on 05/01/17].
    29. 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. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016 Apr; 48(4):374-86. PMID: 26928228; PMCID: PMC4938803 [Available on 10/01/16].
    30. 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 R, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016; 16(5):521-32. PMID: 26810587; PMCID: PMC4841021.
    31. 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 R, 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. 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. PMID: 26857456; PMCID: PMC4746828.
    32. Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J. USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE. Pac Symp Biocomput. 2016; 21:568-75. PMID: 26776219.
      View in: PubMed
    33. Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst. 2016 Feb; 108(2). PMID: 26586665; PMCID: PMC4907358 [Available on 02/01/17].
    34. Nussbaum R, Rehm HL. ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1379. PMID: 26430707.
      View in: PubMed
    35. 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. 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. PMID: 26097993; PMCID: PMC4524985.
    36. Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum R, Scheinman MM, Schmitt N. 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. PMID: 26066609; PMCID: PMC4464365.
    37. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum R, Plon SE, Ramos EM, Sherry ST, Watson MS. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42. PMID: 26014595.
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    38. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecol Oncol. 2016 05; 141(2):386-401. PMID: 25940428.
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    39. 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. 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. PMID: 25925750; PMCID: PMC4478717.
    40. Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL. 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. PMID: 25849179; PMCID: PMC4537700.
    41. 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 R, 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. 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. PMID: 25830658; PMCID: PMC4382299.
    42. 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. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015 Feb; 47(2):164-71. PMID: 25581431; PMCID: PMC4445140.
    43. Kuo YM, Nussbaum R. Prolongation of Chemically-Induced Methemoglobinemia in Mice Lacking a-synuclein: A Novel Pharmacologic and Toxicologic Phenotype. Toxicol Rep. 2015; 2:504-511. PMID: 25859428.
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    115. Gispert S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G, Nussbaum R. 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. PMID: 14572463.
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    116. Chiba-Falek O, Touchman JW, Nussbaum R. Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet. 2003 Oct; 113(5):426-31. PMID: 12923682.
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    117. Bornstein SR, Yoshida-Hiroi M, Sotiriou S, Levine M, Hartwig HG, Nussbaum R, Eisenhofer G. Impaired adrenal catecholamine system function in mice with deficiency of the ascorbic acid transporter (SVCT2). FASEB J. 2003 Oct; 17(13):1928-30. PMID: 12897061.
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    118. Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum R, Cline GW, Shulman GI, McMurray W, De Camilli P. Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry. Nat Biotechnol. 2003 Jul; 21(7):813-7. PMID: 12808461.
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    119. Nussbaum R, Ellis CE. Alzheimer's disease and Parkinson's disease. N Engl J Med. 2003 Apr 03; 348(14):1356-64. PMID: 12672864.
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    120. Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum R, Hunter K, Kelmenson JA, Rowe LB, Brownstein MJ. 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. PMID: 12618379; PMCID: PMC430270.
    121. Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum R, Pearce DA. 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. PMID: 12559844.
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    122. Chiba-Falek O, Nussbaum R. Regulation of alpha-synuclein expression: implications for Parkinson's disease. Cold Spring Harb Symp Quant Biol. 2003; 68:409-15. PMID: 15338643.
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    123. Suchy SF, Nussbaum R. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. 2002 Dec; 71(6):1420-7. PMID: 12428211; PMCID: PMC378584.
    124. Cabin DE, Shimazu K, Murphy D, Cole NB, Gottschalk W, McIlwain KL, Orrison B, Chen A, Ellis CE, Paylor R, Lu B, Nussbaum R. 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. PMID: 12388586.
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    125. Sotiriou S, Gispert S, Cheng J, Wang Y, Chen A, Hoogstraten-Miller S, Miller GF, Kwon O, Levine M, Guttentag SH, Nussbaum R. 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. PMID: 11984597.
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    126. Hellsten E, Bernard DJ, Owens JW, Eckhaus M, Suchy SF, Nussbaum R. 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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    127. Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum R, Davidson B, Wagner J, Mitchison HM. 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. PMID: 11988019.
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    128. Lavedan C, Buchholtz S, Nussbaum R, Albin RL, Polymeropoulos MH. 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. PMID: 11958843.
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    129. Bi L, Okabe I, Bernard DJ, Nussbaum R. Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase. Mamm Genome. 2002 Mar; 13(3):169-72. PMID: 11919689.
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    130. Cooper DN, Nussbaum R, Krawczak M. Proposed guidelines for papers describing DNA polymorphism-disease associations. Hum Genet. 2002 Mar; 110(3):207-8. PMID: 11935332.
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    131. Hellsten E, Evans JP, Bernard DJ, Jänne PA, Nussbaum R. 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. PMID: 11784089.
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    132. Chiba-Falek O, Nussbaum R. 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. PMID: 11751692.
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    133. Cole NB, Murphy DD, Grider T, Rueter S, Brasaemle D, Nussbaum R. Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein. J Biol Chem. 2002 Feb 22; 277(8):6344-52. PMID: 11744721.
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    134. Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum R. 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. PMID: 11156617; PMCID: PMC311023.
    135. Greene ND, Lythgoe MF, Thomas DL, Nussbaum R, Bernard DJ, Mitchison HM. High resolution MRI reveals global changes in brains of Cln3 mutant mice. Eur J Paediatr Neurol. 2001; 5 Suppl A:103-7. PMID: 11588978.
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    136. Gispert S, Dutra A, Lieberman A, Friedlich D, Nussbaum R. Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter. DNA Res. 2000 Dec 31; 7(6):339-45. PMID: 11214969.
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    137. Ellis CE, Schwartzberg PL, Grider TL, Fink DW, Nussbaum R. alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases. J Biol Chem. 2001 Feb 09; 276(6):3879-84. PMID: 11078745.
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    138. Dressman MA, Olivos-Glander IM, Nussbaum R, Suchy SF. 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. PMID: 10639484.
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    139. 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 R. 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. PMID: 10527801.
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    140. Bi L, Okabe I, Bernard DJ, Wynshaw-Boris A, Nussbaum R. 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. PMID: 10196176.
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    141. Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum R, Mitchison HM. A murine model for juvenile NCL: gene targeting of mouse Cln3. Mol Genet Metab. 1999 Apr; 66(4):309-13. PMID: 10191119.
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    142. Bascom RA, Srinivasan S, Nussbaum R. 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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    143. Lin T, Lewis RA, Nussbaum R. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. 1999 Jan; 106(1):119-22. PMID: 9917791.
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    144. 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 R, Polymeropoulos MH. 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. PMID: 10048491.
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    145. Lavedan C, Leroy E, Torres R, Dehejia A, Dutra A, Buchholtz S, Nussbaum R, Polymeropoulos MH. Genomic organization and expression of the human beta-synuclein gene (SNCB). Genomics. 1998 Nov 15; 54(1):173-5. PMID: 9806846.
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    146. Mezey E, Dehejia AM, Harta G, Tresser N, Suchy SF, Nussbaum R, Brownstein MJ, Polymeropoulos MH. Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease. Mol Psychiatry. 1998 Nov; 3(6):493-9. PMID: 9857974.
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    147. Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum R. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn. 1998 Nov; 18(11):1117-21. PMID: 9854717.
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    148. Lavedan C, Leroy E, Dehejia A, Buchholtz S, Dutra A, Nussbaum R, Polymeropoulos MH. Identification, localization and characterization of the human gamma-synuclein gene. Hum Genet. 1998 Jul; 103(1):106-12. PMID: 9737786.
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    149. Lavedan C, Grabczyk E, Usdin K, Nussbaum R. 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. PMID: 9653650.
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    150. Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum R. 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. PMID: 9593760; PMCID: PMC508792.
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    152. Nussbaum R. Putting the parkin into Parkinson's. Nature. 1998 Apr 09; 392(6676):544-5. PMID: 9560145.
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    153. Lavedan C, Dehejia A, Pike B, Dutra A, Leroy E, Ide SE, Root H, Rubenstein J, Boyer RL, Chandrasekharappa S, Makalowska I, Nussbaum R, Polymeropoulos MH. Contig map of the Parkinson's disease region on 4q21-q23. DNA Res. 1998 Feb 28; 5(1):19-23. PMID: 9628579.
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    154. Lavedan CN, Garrett L, Nussbaum R. 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. PMID: 9272164.
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    155. 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 R. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997 Jun 27; 276(5321):2045-7. PMID: 9197268.
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    156. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum R. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997 Jun; 60(6):1384-8. PMID: 9199559; PMCID: PMC1716142.
    157. Nussbaum R, Orrison BM, Jänne PA, Charnas L, Chinault AC. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb; 99(2):145-50. PMID: 9048911.
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    158. Nussbaum R, Polymeropoulos MH. Genetics of Parkinson's disease. Hum Mol Genet. 1997; 6(10):1687-91. PMID: 9300660.
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    159. Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum R, Duvoisin RC. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science. 1996 Nov 15; 274(5290):1197-9. PMID: 8895469.
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    160. Okabe I, Nussbaum R. 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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    161. Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum R, Dreyfuss G. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J. 1995 Nov 01; 14(21):5358-66. PMID: 7489725; PMCID: PMC394645.
    162. Olivos-Glander IM, Jänne PA, Nussbaum R. 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. PMID: 7573041; PMCID: PMC1801524.
    163. Oakey RJ, Matteson PG, Litwin S, Tilghman SM, Nussbaum R. 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. PMID: 8647401; PMCID: PMC1206764.
    164. Jänne PA, Rochelle JM, Martin-DeLeon PA, Stambolian D, Seldin MF, Nussbaum R. 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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    165. Siomi MC, Siomi H, Sauer WH, Srinivasan S, Nussbaum R, Dreyfuss G. FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J. 1995 Jun 01; 14(11):2401-8. PMID: 7781595; PMCID: PMC398353.
    166. Hudson TJ, Colbert AM, Reeve MP, Bae JS, Lee MK, Nussbaum R, 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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    167. Siomi H, Choi M, Siomi MC, Nussbaum R, 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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    168. Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum R. Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet Cell Genet. 1994; 66(3):164-6. PMID: 8125013.
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    169. Siomi H, Siomi MC, Nussbaum R, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell. 1993 Jul 30; 74(2):291-8. PMID: 7688265.
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    170. Leahey AM, Charnas LR, Nussbaum R. 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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    171. Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum R. 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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    172. Okabe I, Bailey LC, Attree O, Srinivasan S, Perkel JM, Laurent BC, Carlson M, Nelson DL, Nussbaum R. 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; PMCID: PMC334196.
    173. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum R. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16; 358(6383):239-42. PMID: 1321346.
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    174. Spielman RS, Nussbaum R. Dual developments in diabetes. Nat Genet. 1992 May; 1(2):82-3. PMID: 1302013.
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    175. Puck JM, Stewart CC, Nussbaum R. 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; PMCID: PMC1682632.
    176. Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum R. Isolation of a candidate gene for choroideremia. Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6):2135-9. PMID: 1549574; PMCID: PMC48611.
    177. Lee JT, Murgia A, Sosnoski DM, Olivos IM, Nussbaum R. 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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