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 ยป 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. USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE. Pac Symp Biocomput. 2016; 21:568-75.
    View on PubMed
  2. ClinGen and Genetic Testing. N Engl J Med. 2015 Oct; 373(14):1379.
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  3. 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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  4. 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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  5. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4; 372(23):2235-42.
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  6. 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
  7. 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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  8. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015 Feb; 47(2):164-71.
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  9. 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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  10. 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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  11. 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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  12. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909.
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  13. Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2. Cancer. 2014 May 15; 120(10):1557-64.
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  14. Transgenic mice expressing S129 phosphorylation mutations in a-synuclein. Neurosci Lett. 2014 Mar 20; 563:96-100.
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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10.
    View on PubMed

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