World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
105
Citations
67815
World Ranking
615
National Ranking
310

Medicine

D-Index
107
Citations
69758
World Ranking
6102
National Ranking
3266

Overview

Robert L. Nussbaum is affiliated with the University of California, San Francisco in the United States. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, with significant contributions in medicine. Nussbaum's work has a strong focus on genetics and molecular biology, cardiology and cardiovascular medicine, cancer research, and pulmonary and respiratory medicine.

The scientist's main topics of study include BRCA gene mutations in cancer, genomics and rare diseases, cancer genomics and diagnostics, genetic factors in colorectal cancer, cardiomyopathy and myosin studies, genomic variations and chromosomal abnormalities, and ethics in clinical research.

Nussbaum has published extensively in notable scientific venues. Frequent publication outlets include the Journal of Clinical Oncology, Cancer Research, The American Journal of Human Genetics, Genetics in Medicine, and bioRxiv (Cold Spring Harbor Laboratory).

Among recent research papers, significant works include:

  • Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths (2021, Science Immunology)
  • X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 (2021, Science Immunology)
  • Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome (2020, JAMA Oncology)
  • The role of exome sequencing in newborn screening for inborn errors of metabolism (2020, Nature Medicine)
  • Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer (2020, JAMA Network Open)

Frequent co-authors collaborating with Nussbaum include Edward D. Esplin, Sarah M. Nielsen, Kathryn E. Hatchell, Brandie Heald, and Swaroop Aradhya.

Best Publications

  • Mutation in the α-synuclein gene identified in families with Parkinson's disease

    Mihael H. Polymeropoulos;Christian Lavedan;Elisabeth Leroy;Susan E. Ide

  • The International HapMap Project

    John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu

  • α-Synuclein Locus Triplication Causes Parkinson's Disease

    A. B. Singleton;M. Farrer;J. Johnson;A. Singleton

  • Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

    Eriza Maria Valente;Patrick M. Abou-Sleiman;Viviana Caputo;Miratul M K Muqit

  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

    Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia

  • Alzheimer's Disease and Parkinson's Disease

    Robert L. Nussbaum;Christopher E. Ellis

  • Synaptic Vesicle Depletion Correlates with Attenuated Synaptic Responses to Prolonged Repetitive Stimulation in Mice Lacking α-Synuclein

    Deborah E. Cabin;Kazuhiro Shimazu;Diane Murphy;Nelson B. Cole

  • ClinGen — The Clinical Genome Resource

    Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante

  • Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

    Mihael H. Polymeropoulos;Joseph J. Higgins;Lawrence I. Golbe;William G. Johnson

  • Structure and Dynamics of Micelle-bound Human α-Synuclein

    Tobias S. Ulmer;Ad Bax;Nelson B. Cole;Robert L. Nussbaum

  • The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.

    Haruhiko Siomi;Mikiko C. Siomi;Robert L. Nussbaum;Gideon Dreyfuss

  • Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

    Nasim Mavaddat;Daniel Barrowdale;Irene L. Andrulis;Susan M. Domchek

  • Direct Membrane Association Drives Mitochondrial Fission by the Parkinson Disease-associated Protein α-Synuclein

    Ken Nakamura;Venu M. Nemani;Farnaz Azarbal;Gaia Skibinski

  • Association Between BRCA1 and BRCA2 Mutations and Survival in Women with Invasive Epithelial Ovarian Cancer

    Kelly L. Bolton;Kelly L. Bolton;Georgia Chenevix-Trench;Cindy Goh;Siegal Sadetzki

  • DLB and PDD boundary issues: Diagnosis, treatment, molecular pathology, and biomarkers

    C. F. Lippa;J. E. Duda;M. Grossman;H. I. Hurtig

  • Lipid droplet binding and oligomerization properties of the Parkinson's disease protein α-synuclein

    Nelson B. Cole;Diane D. Murphy;Theresa Grider;Susan Rueter

  • Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinase.

    Lei Bi;Ichiro Okabe;David J. Bernard;Anthony Wynshaw-Boris

  • The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.

    Attree O;Olivos Im;Okabe I;Bailey Lc

  • 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.

    Haruhiko Siomi;Mleyoung Choi;Mikiko C. Siomi;Robert L. Nussbaum

  • Genetic/familial high-risk assessment: breast and ovarian.

    Mary B. Daly;Jennifer E. Axilbund;Saundra Buys;Beth Crawford

Frequent Co-Authors

Irene L. Andrulis
Irene L. Andrulis University of Toronto
Roderick R. McInnes
Roderick R. McInnes University of Toronto
Eitan Friedman
Eitan Friedman City University of New York
Georgia Chenevix-Trench
Georgia Chenevix-Trench QIMR Berghofer Medical Research Institute
Antonis C. Antoniou
Antonis C. Antoniou University of Cambridge
Javier Benitez
Javier Benitez Instituto de Salud Carlos III
Judy Garber
Judy Garber Harvard University
Douglas F. Easton
Douglas F. Easton University of Cambridge
Kenneth Offit
Kenneth Offit Memorial Sloan Kettering Cancer Center
Marco Montagna
Marco Montagna Istituto Oncologico Veneto

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