Robert Nussbaum, MD

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Robert Nussbaum, MD

Professor, Department of Medicine, and Chief, Division of Medical Genetics, UCSF
Holly Smith Distinguished Professorship in Science and Medicine, UCSF

nussbaumr@humgen.ucsf.edu

Phone: (415) 476-3200 (voice)
Box 0794, UCSF
San Francisco, CA 94143-0794

View on UCSF Profiles

Cancer Center Membership

Associate Member » Cancer Genetics

Education

Harvard College, AB, 1967-1971, Applied Mathematics
Harvard-MIT Joint Program in Health Sciences and Technology, MD, 1971-1975, Medicine
Washington University & Barnes Hospital, 1975-1978, Internal medicine
Baylor College of Medicine, 1978-1981, Medical Genetics


Professional Experience

  • 1981-1984
    Assistant Professor of Medicine, Baylor College of Medicine
  • 1983-1993
    Associate Investigator, Howard Hughes Medical Institute
  • 1984-1989
    Assistant Professor of Human Genetics & Pediatrics, Univ. of Pennsylvania
  • 1989-1993
    Associate Professor of Human Genetics & Pediatrics, Univ. of Pennsylvania
  • 1993-1994
    Professor of Genetics, Univ. of Pennsylvania
  • 1994-2006
    Chief, Genetic Disease Research Branch, National Human Genome Research Institute; NIH
  • 1996-2006
    Acting Chief, Inherited Disease Research Branch, NHGRI
  • 2006-present
    Holly Smith Chair and Professor of Medicine; Chief, Medical Genetics; Member, Institute of Human Genetics, UCSF. Professor of Neurology, UCSF
  • 2007-present
    Executive Committee of the Biomedical Graduate Studies Graduate Program. Medical Scientist Training Program Council

Honors & Awards

  • 1975Elected to Alpha Omega Alpha
  • 1977Outstanding Medical Resident, Barnes Hospital
  • 1986Medical Research Award, Lowe's Syndrome Association
  • 1987Elected Member, American Society for Clinical Investigation
  • 1989Master of Arts (honorary), University of Pennsylvania
  • 1991Sir Clavering Fison Visiting Professor, Institute for Child Health, Hospital for Sick Children, Great London, UK
  • 1993
    Medical Research Award, Lowe's Syndrome Association
  • 1994
    Morehouse School of Medicine Human Genome/Molecular Medicine Symposium Lecturer
  • 1996
    Medical Research Award, Lowe's Syndrome Association
  • 1996
    Elected Member, Association of American Physicians
  • 1996
    NHGRI Director's Award
  • 1996
    NIH Director's Award
  • 1998
    NHGRI Director's Award
  • 1999
    G. Burroughs Mider Lectureship, National Institutes of Health
  • 2003
    NHGRI Director's Award
  • 2003
    Forbes Lectureship, Medical College of Virginia
  • 2004
    Elected Member, Institute of Medicine of the National Academy of Science
  • 2004
    NHGRI Director's Distinguished Service Award
  • 2008
    Legacy Award, Lowe's Syndrome Research, for over two decades of Lowe Syndrome Research

Selected Publications

  1. 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.
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  2. Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, 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; 5:10009.
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  3. 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--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4; 372(23):2235-42.
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  4. 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 7; 313(13):1347-61.
    View on PubMed
  5. 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, Cajal TR, 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. 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.
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  6. 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.
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  7. Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015 Apr 1; 24(7):1836-42.
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  8. 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. Germline Mutation in BRCA1 or BRCA2 and Ten-Year Survival for Women Diagnosed with Epithelial Ovarian Cancer. Clin Cancer Res. 2015 Feb 1; 21(3):652-7.
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  9. Fishbein I, Kuo YM, Giasson BI, Nussbaum RL. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain. 2014 Dec; 137(Pt 12):3235-47.
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  10. 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. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909.
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  11. 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. Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2. Cancer. 2014 May 15; 120(10):1557-64.
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  12. Escobar VD, Kuo YM, Orrison BM, Giasson BI, Nussbaum RL. Transgenic mice expressing S129 phosphorylation mutations in a-synuclein. Neurosci Lett. 2014 Mar 20; 563:96-100.
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  13. 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. Research on the premotor symptoms of Parkinson's disease: clinical and etiological implications. Environ Health Perspect. 2013 Nov-Dec; 121(11-12):1245-52.
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  14. 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. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul; 15(7):565-74.
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  15. Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circ Arrhythm Electrophysiol. 2013 Feb; 6(1):177-84.
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  16. 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. Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration. J Clin Invest. 2012 Sep 4; 122(9):3159-69.
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  17. 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. a-Synuclein in human cerebrospinal fluid is principally derived from neurons of the central nervous system. J Neural Transm. 2012 Jul; 119(7):739-46.
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  18. 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. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10.
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  19. Nussbaum RL. Critique of "Evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing". Surgery. 2012 Apr; 151(4):634-7.
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  20. 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. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012 Jan 25; 307(4):382-90.
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