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Robert Nussbaum, MD


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


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

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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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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. 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.
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  9. Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE. 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.
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  10. Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. Reply to Professor Lefthériotis et al. Mol Genet Metab. 2011 Jul; 103(3):305.
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  11. 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. Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. J Biol Chem. 2011 Jun 10; 286(23):20710-26.
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  12. Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. 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.
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  13. 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. NT5E mutations and arterial calcifications. N Engl J Med. 2011 Feb 3; 364(5):432-42.
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  14. Bale S, Devisscher M, Van Criekinge W, Rehm HL, Decouttere F, Nussbaum R, Dunnen JT, Willems P. MutaDATABASE: a centralized and standardized DNA variation database. Nat Biotechnol. 2011 Feb; 29(2):117-8.
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  15. Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol. 2011 Mar; 22(3):443-8.
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  16. Bothwell SP, Farber LW, Hoagland A, Nussbaum RL. 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.
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  17. Sung RK, Ursell PC, Rame JE, Bailey H, Caleshu C, Nussbaum RL, Scheinman MM. QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy. Pacing Clin Electrophysiol. 2011 Dec; 34(12):e105-8.
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  18. 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. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010 May; 8(5):562-94.
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  19. 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. 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.
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  20. Bernard DJ, Nussbaum RL. X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice. Mamm Genome. 2010 Apr; 21(3-4):186-94.
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