Robert L Nussbaum MD
Clinical Genetics, Clinical Molecular Genetics
Professor, Medicine, UCSF School of Medicine
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513 Parnassus Ave# HSE901ESan Francisco, CA 94143
Phone+1 415-476-3200
Fax+1 415-502-0720
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Education & Training
Baylor College of MedicineFellowship, 1978 - 1980
Washington University/B-JH/SLCH ConsortiumResidency, Internal Medicine, 1975 - 1978
Harvard Medical SchoolClass of 1975
Certifications & Licensure
CA State Medical License 2006 - 2026
NC State Medical License 2017 - 2024
MD State Medical License 1995 - 2007
PA State Medical License 1984 - 1994
TX State Medical License 1981 - 1985
American Board of Internal Medicine Internal Medicine
American Board of Medical Genetics and Genomics Clinical Genetics
Awards, Honors, & Recognition
- CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2012-2013
- Elected Member Institute of Medicine, 2004
- Elected Member The American Society for Clinical Investigation, 1987
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Publications & Presentations
PubMed
- Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.Toby R Manders, Christopher A Tan, Yuya Kobayashi, Alexander Wahl, Carlos Araya
Human Genetics. 2025-06-01 - Germline Genetic Testing in Patients with Bone and Soft Tissue Sarcoma: A Prospective Multicenter Study to Evaluate Cancer Susceptibility.Isaak Ailts, Michael A Golafshar, Katie L Kunze, Margaret Klint, Kathleen Barrus
International Journal of Molecular Sciences. 2025-03-21 - 1 citationsImplementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study.Hikmat Abdel-Razeq, Baha' Sharaf, Hira Bani Hani, Ramiz Abu Hijlih, Mais Alkyam
JCO Global Oncology. 2024-06-01
Journal Articles
- Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients with Hereditary Cancer SyndromeScott Okuno, Luke Mountjoy, Cameron S Thorpe, Edward D Esplin, Robert L Nussbaum, Alan H Bryce, Tanios S Bekaii-Saab, Aleksandar Sekulic, JAMA Oncology
- Distinguishing Variant Pathogenicity from Genetic DiagnosisHeidi L Rehm, Robert L Nussbaum, JAMA
- Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization StudySusan M Domchek, Wendy K Chung, Patricia A Ganz, Robert L Nussbaum, Journal of the National Cancer Institute
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Press Mentions
http://thesmarterbusiness.com/Thompson-Thompson-Genetics-in-Medicine-by-Nussbaum-Md-Robert-Mcinnes-Md-Phd-Frsc-Roderick-R-W-Saunders2007-Paperback-7th-Edition.pdfJune 27th, 2020
Why Not All Genetic Testing Is Created Equal on Coast LiveJune 17th, 2019
Invitae Study of 143,000 Patients Shows Importance of Routinely Including Deletion and Duplication Detection with Sequencing in Genetic TestingJune 13th, 2018- Join now to see all
Grant Support
- Combined BAC Transgenic And Knock-Out Mouse Model Of Lowe Syndrome NephropathyNational Institute Of Diabetes And Digestive And Kidney Diseases2012
- Glucocerebrosidase Mutations In A Mouse Synucleinopathy ModelNational Institute On Aging2011
- GI Endotoxin As An Environmental Trigger In An Alpha-Synuclein Transgenic MouseNational Institute Of Environmental Health Sciences2010–2011
- Combined BAC Transgenic And Knock-Out Mouse Model Of Lowe Syndrome NephropathyNational Institute Of Diabetes And Digestive And Kidney Diseases2010
- Glucocerebrosidase Mutations In A Mouse Synucleinopathy ModelNational Institute On Aging2009–2010
- Studies On Mouse VIT C TransporterNational Human Genome Research Institute2002–2005
- The Lowe Oculocerebrorenal SyndromeNational Human Genome Research Institute2000–2005
- Genetics Of Parkinson'S DiseaseNational Human Genome Research Institute1997–2005
- Outcomes Of Education And Counseling For HnpcctestingNational Human Genome Research Institute2004
- Lowe Oculocerebrorenal SyndromeNational Human Genome Research Institute1995–2004
- Positional Cloning Of Autosomal Dominant Fanconi SyndromNational Human Genome Research Institute2001
- Studies On Mouse Vitamin C TransporterNational Human Genome Research Institute2001
- Mouse Vitamin C TransporterNational Human Genome Research Institute2000
- Batten DiseaseNational Human Genome Research Institute2000
- Mouse Model For Batten'S DiseaseNational Human Genome Research Institute1999
- Genetics Of ParkinsonNational Human Genome Research Institute1998–1999
- Mice Defective In Phosphatidylinositol SignalingNational Human Genome Research Institute1995–1999
- Mutation Analysis In Patients With Lowe Oculocerebrorenal SyndromeNational Human Genome Research Institute1996–1998
- Triplet Repeat Amplification In The Fragile X SyndromeNational Human Genome Research Institute1995–1997
- Isolating The Gene For ChoroideremiaNational Eye Institute1987–1993
- Molecular Genetic Analysis Of Lowe'S SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development1989–1992
- Postdoctoral Training In Molecular Genetic ResearchNational Institute Of General Medical Sciences1988–1992
- Genetic &Molecular Studies In Lowe'S SyndromeEunice Kennedy Shriver National Institute Of Child Health &Human Development1987–1988
- Molecular Analysis Of Fragile X In Somatic Cell HybridsEunice Kennedy Shriver National Institute Of Child Health &Human Development1985–1987
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