2026 James R. Lupski: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	165	78	75	41	40	858	107040
Medicine	165	631	577	361	323	878	107535

Research.com Recognitions

2026 - Research.com Genetics in United States Leader Award
2025 - Research.com Genetics in United States Leader Award
2024 - Research.com Genetics in United States Leader Award
2024 - Research.com Genetics and Molecular Biology in United States Leader Award
2023 - Research.com Genetics in United States Leader Award
2013 - Fellow of the American Academy of Arts and Sciences
2002 - Curt Stern Award, American Society of Human Genetics
2002 - Member of the National Academy of Medicine (NAM)
1998 - E. Mead Johnson Award, Society for Pediatric Research
1996 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

James R. Lupski is affiliated with Baylor College of Medicine in the United States. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with a significant emphasis on genetics and molecular mechanisms underlying human disease.

Their work includes substantial contributions in the following subfields:

Genetics
Molecular Biology
Immunology
Cell Biology
Cellular and Molecular Neuroscience

Main topics addressed in their research comprise:

Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Genetics and Neurodevelopmental Disorders
RNA modifications and cancer
Congenital heart defects research
Immunodeficiency and Autoimmune Disorders
RNA Research and Splicing

Recent papers authored by James R. Lupski include:

"TLR7 gain-of-function genetic variation causes human lupus", 2022, Nature
"HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease", 2020, Science
"High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population", 2021, The American Journal of Human Genetics
"NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease", 2020, Nature Communications
"Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome", 2021, The American Journal of Human Genetics

Their frequent co-authors include:

Jennifer E. Posey
Davut Pehli̇van
Richard A. Gibbs
Zeynep Coban-Akdemir
Shalini N. Jhangiani

James R. Lupski publishes regularly in several scientific venues, including:

The American Journal of Human Genetics
bioRxiv (Cold Spring Harbor Laboratory)
Genetics in Medicine
American Journal of Medical Genetics Part A
Human Mutation

The scientist has received several awards and honors, such as:

Fellow of the American Academy of Arts and Sciences (2013)
Curt Stern Award, American Society of Human Genetics (2002)
Member of the National Academy of Medicine (NAM) (2002)
E. Mead Johnson Award, Society for Pediatric Research (1998)
Fellow of the American Association for the Advancement of Science (AAAS) (1996)

Best Publications

The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler;Maithreyan Srinivasan;Michael Egholm;Yufeng Shen

2397
Citations
Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction

James Versalovic;M. Schneider;F. J. De Bruijn;J. R. Lupski

2383
Citations
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge

2146
Citations
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Rando Allikmets;Nanda Singh;Hui Sun;Noah F. Shroyer

1670
Citations
DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski;Roberto Montes de Oca-Luna;Susan Slaugenhaupt;Liu Pentao

1509
Citations
Mechanisms of change in gene copy number

P. J. Hastings;James R. Lupski;James R. Lupski;Susan M. Rosenberg;Grzegorz Ira

1500
Citations
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu

1460
Citations
Structural Variation in the Human Genome and its Role in Disease

Paweł Stankiewicz;James R. Lupski

1429
Citations
Copy number variation in human health, disease, and evolution.

Feng Zhang;Wenli Gu;Matthew E. Hurles;James R. Lupski

1386
Citations
Mutation of the Stargardt Disease Gene (ABCR) in Age-related Macular Degeneration

R. Allikmets;N. F. Shroyer;N. Singh;J. M. Seddon

1139
Citations
Genome architecture, rearrangements and genomic disorders

Pawel Stankiewicz;James R. Lupski

1133
Citations
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

James R Lupski

1087
Citations
A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Jennifer A. Lee;Claudia M.B. Carvalho;James R. Lupski;James R. Lupski

1046
Citations
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

P. J. Hastings;Grzegorz Ira;James R. Lupski;James R. Lupski

931
Citations
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

James R. Lupski;Jeffrey G. Reid;Claudia Gonzaga-Jauregui;David Rio Deiros

911
Citations
Mechanisms for human genomic rearrangements

Wenli Gu;Wenli Gu;Feng Zhang;James R Lupski;James R Lupski

757
Citations
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis;Stephen J. Ansley;Jose L. Badano;Erica R. Eichers

729
Citations
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong;Kati J. Buckingham;Shalini N. Jhangiani;Corinne Boehm

710
Citations
Implications of human genome architecture for rearrangement based disorders: the genomic basis of disease

Christine J. Shaw;James R. Lupski

693
Citations
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

James R Lupski;Pawel Stankiewicz

682
Citations

Frequent Co-Authors

Richard A. Gibbs Baylor College of Medicine

Donna M. Muzny Baylor College of Medicine

Shalini N. Jhangiani Baylor College of Medicine

Pawel Stankiewicz Baylor College of Medicine

Eric Boerwinkle The University of Texas Health Science Center at Houston

Tomasz Gambin Warsaw University of Technology

Claudia M.B. Carvalho Pacific Northwest Diabetes Research Institute

Chad A. Shaw Baylor College of Medicine

Sau Wai Cheung Baylor College of Medicine

Jennifer E. Posey Baylor College of Medicine

External Links

Wikipedia of James R. Lupski Personal website of James R. Lupski

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