Robert L. Nussbaum

Also affiliated with University of California San Francisco Medical Center, Mayo Clinic in Florida, Invitae (United States), University of San Francisco

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 19 papers. Top paper: “Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase Deficiency”.

Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase Deficiency

New England Journal of Medicine(1988)10.1056/nejm198810133191507

N/A

6.7DataRank · unranked

67 citations

Donna M. Sosnoski, Gerard T. Berry, Robert L. Nussbaum, Anne Maddalena

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

Science(1997)10.1126/science.276.5321.2045

N/A

1.4DataRank · unranked

8199 citations

Christian Lavedan, Elisabeth Leroy, Susan E. Ide, Anindya Dehejia, Amalia Dutra +21 more

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Science Immunology(2021)10.1126/sciimmunol.abl4340

N/A

0.969DataRank · unranked

637 citations

Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Jérémy Manry +95 more

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Science Immunology(2021)10.1126/sciimmunol.abl4348

N/A

0.907DataRank · unranked

422 citations

Bertrand Boisson, Fanny Onodi, Daniela Matuozzo, Marcela Moncada‐Vélez, Majistor Raj Luxman Maglorius Renkilaraj +95 more

The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature Medicine(2020)10.1038/s41591-020-0966-5

N/A

0.835DataRank · unranked

261 citations

Renata C. Gallagher, Yaqiong Wang, Robert J. Currier, George S. Amatuni, Laia Bassaganyas +19 more

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

Research Square(2022)10.21203/rs.3.rs-1225906/v1

N/A

0.483DataRank · unranked

24 citations

Paul Bastard, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot +95 more

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

medRxiv(2022)10.1101/2022.10.22.22281221

N/A

0.360DataRank · unranked

10 citations

Estelle Talouarn, Astrid Marchal, Jérémy Manry, Yoann Seeleuthner, Yu Zhang +95 more

Challenges in providing residual risks in carrier testing

Prenatal Diagnosis(2021)10.1002/pd.5975

N/A

0DataRank · unranked

12 citations

Robert Nathan Slotnick, Neil Risch, Robert L. Nussbaum

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.012

N/A

0DataRank · unranked

33 citations

Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli +20 more

Using a chat-based informed consent tool in large-scale genomic research

Journal of the American Medical Informatics Association(2023)10.1093/jamia/ocad181

N/A

0DataRank · unranked

20 citations

Jonathan LoTempio, Erica D. Smith, E. Hallie Andrew, Glòria Mas Martín, Amanda Kahn-Kirby +8 more

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.02.013

N/A

0DataRank · unranked

26 citations

Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda‐Alvarez +11 more

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.02.06.527353

N/A

0DataRank · unranked

4 citations

Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Marinella Gebbia +19 more

From Expert Knowledge to Validation Resources

Journal of Molecular Diagnostics(2025)10.1016/j.jmoldx.2025.07.006

N/A

0DataRank · unranked

0 citations

Martine Tremblay, Edward R. Lockhart, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Mark Bowser +12 more

Contributors

Genomic and Personalized Medicine(2009)10.1016/b978-0-12-369420-1.00122-0

N/A

0DataRank · unranked

0 citations

Matthew L. Anderson, Felicita Andreotti, Brian H. Annex, Anthony Antonellis, Dmitri Artemov +272 more

Contributors

Essentials of Genomic and Personalized Medicine(2010)10.1016/b978-0-12-374934-5.00076-3

N/A

0DataRank · unranked

0 citations

Peter J. Barnes, Ivor J. Benjamin, Mark Boguski, Brigitta Bondy, Roger E. Breitbart +64 more

Management of Secondary Genomic Findings

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.05.002

N/A

0DataRank · unranked

60 citations

Robert L. Nussbaum, Benjamin D. Solomon, Heidi L. Rehm, Marc S. Williams, Leslie G. Biesecker +1 more

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

International Journal of Neonatal Screening(2020)10.3390/ijns6020041

N/A

0DataRank · unranked

19 citations

Robert J. Currier, Hao Tang, Coleman Turgeon, Robert L. Nussbaum, Rajgopal Srinivasan +7 more

ClinGen — The Clinical Genome Resource

UNC Libraries(2020)10.17615/js2g-yk58

N/A

0DataRank · unranked

0 citations

Erin M. Ramos, David H. Ledbetter, Carlos D. Bustamante, Stephen T. Sherry, Michael S. Watson +9 more

The genetic architecture of Plakophilin 2 cardiomyopathy

Genetics in Medicine(2021)10.1038/s41436-021-01233-7

N/A

0DataRank · unranked

36 citations

Anna Kirillova, Chloe Reuter, John Garcia, Hana Zouk, Megan Hawley +28 more