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Genetics
USA
2026
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Genetics and Molecular Biology
USA
2024

D-Index & Metrics

Genetics

D-Index
165
Citations
107040
World Ranking
78
National Ranking
41

Medicine

D-Index
165
Citations
107535
World Ranking
631
National Ranking
361

James R. Lupski publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where James R. Lupski sits on this spectrum.

45–54 publications: 6 scientists 55–64 publications: 10 scientists 65–74 publications: 35 scientists 75–84 publications: 84 scientists 85–94 publications: 102 scientists 95–104 publications: 151 scientists 105–114 publications: 175 scientists 115–124 publications: 203 scientists 125–134 publications: 217 scientists 135–144 publications: 205 scientists 145–154 publications: 193 scientists 155–164 publications: 188 scientists 165–174 publications: 170 scientists 175–184 publications: 178 scientists 185–194 publications: 164 scientists 195–204 publications: 173 scientists 205–214 publications: 159 scientists 215–224 publications: 134 scientists 225–234 publications: 143 scientists 235–244 publications: 105 scientists 245–254 publications: 114 scientists 255–264 publications: 92 scientists 265–274 publications: 88 scientists 275–284 publications: 87 scientists 285–294 publications: 80 scientists 295–304 publications: 62 scientists 305–314 publications: 75 scientists 315–324 publications: 67 scientists 325–334 publications: 60 scientists 335–344 publications: 52 scientists 345–354 publications: 40 scientists 355–364 publications: 48 scientists 365–374 publications: 47 scientists 375–384 publications: 46 scientists 385–394 publications: 31 scientists 395–404 publications: 27 scientists 405–414 publications: 40 scientists 415–424 publications: 30 scientists 425–434 publications: 43 scientists 435–444 publications: 29 scientists 445–454 publications: 14 scientists 455–464 publications: 28 scientists 465–474 publications: 21 scientists 475–484 publications: 21 scientists 485–494 publications: 22 scientists 495–504 publications: 17 scientists 505–514 publications: 12 scientists 515–524 publications: 11 scientists 525–534 publications: 8 scientists 535–544 publications: 8 scientists 545–554 publications: 14 scientists 555–564 publications: 4 scientists 565–574 publications: 11 scientists 575–584 publications: 5 scientists 585–594 publications: 11 scientists 595–604 publications: 12 scientists 605–614 publications: 7 scientists 615–624 publications: 6 scientists 625–634 publications: 10 scientists 635–644 publications: 9 scientists 645–654 publications: 10 scientists 655–664 publications: 6 scientists 665–674 publications: 6 scientists 675–684 publications: 6 scientists 685–694 publications: 4 scientists 695–702 publications: 6 scientists 703+ publications: 100 scientists
45 publications 703+

This scientist: 858 publications — 99th percentile

99% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 703 publications or more.

James R. Lupski D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where James R. Lupski sits on this spectrum.

40–41 D-Index: 24 scientists 42–43 D-Index: 52 scientists 44–45 D-Index: 84 scientists 46–47 D-Index: 112 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 141 scientists 52–53 D-Index: 143 scientists 54–55 D-Index: 145 scientists 56–57 D-Index: 179 scientists 58–59 D-Index: 162 scientists 60–61 D-Index: 175 scientists 62–63 D-Index: 191 scientists 64–65 D-Index: 172 scientists 66–67 D-Index: 184 scientists 68–69 D-Index: 164 scientists 70–71 D-Index: 158 scientists 72–73 D-Index: 150 scientists 74–75 D-Index: 136 scientists 76–77 D-Index: 127 scientists 78–79 D-Index: 127 scientists 80–81 D-Index: 111 scientists 82–83 D-Index: 110 scientists 84–85 D-Index: 110 scientists 86–87 D-Index: 84 scientists 88–89 D-Index: 102 scientists 90–91 D-Index: 66 scientists 92–93 D-Index: 72 scientists 94–95 D-Index: 70 scientists 96–97 D-Index: 54 scientists 98–99 D-Index: 60 scientists 100–101 D-Index: 49 scientists 102–103 D-Index: 55 scientists 104–105 D-Index: 45 scientists 106–107 D-Index: 42 scientists 108–109 D-Index: 28 scientists 110–111 D-Index: 39 scientists 112–113 D-Index: 25 scientists 114–115 D-Index: 31 scientists 116–117 D-Index: 29 scientists 118–119 D-Index: 34 scientists 120–121 D-Index: 29 scientists 122–123 D-Index: 29 scientists 124–125 D-Index: 18 scientists 126–127 D-Index: 27 scientists 128–129 D-Index: 22 scientists 130–131 D-Index: 16 scientists 132–133 D-Index: 11 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 12 scientists 138–139 D-Index: 21 scientists 140–141 D-Index: 4 scientists 142–143 D-Index: 9 scientists 144–145 D-Index: 14 scientists 146–147 D-Index: 6 scientists 148–149 D-Index: 10 scientists 150–151 D-Index: 7 scientists 152–153 D-Index: 9 scientists 154–155 D-Index: 8 scientists 156–157 D-Index: 8 scientists 158–159 D-Index: 9 scientists 160+ D-Index: 96 scientists
40 D-Index 160+

This scientist: 165 D-Index — 98th percentile

98% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 160 D-Index or more.

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

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

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

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

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

  • 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

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

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

  • Mechanisms of change in gene copy number

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

  • Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

  • Structural Variation in the Human Genome and its Role in Disease

    Paweł Stankiewicz;James R. Lupski

  • Copy number variation in human health, disease, and evolution.

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

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

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

  • Genome architecture, rearrangements and genomic disorders

    Pawel Stankiewicz;James R. Lupski

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

    James R Lupski

  • 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

  • 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

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

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

  • Mechanisms for human genomic rearrangements

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

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

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

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

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

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

    Christine J. Shaw;James R. Lupski

  • Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

    James R Lupski;Pawel Stankiewicz

Frequent Co-Authors

Richard A. Gibbs
Richard A. Gibbs Baylor College of Medicine
Donna M. Muzny
Donna M. Muzny Baylor College of Medicine
Shalini N. Jhangiani
Shalini N. Jhangiani Baylor College of Medicine
Pawel Stankiewicz
Pawel Stankiewicz Baylor College of Medicine
Eric Boerwinkle
Eric Boerwinkle The University of Texas Health Science Center at Houston
Tomasz Gambin
Tomasz Gambin Warsaw University of Technology
Claudia M.B. Carvalho
Claudia M.B. Carvalho Pacific Northwest Diabetes Research Institute
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Sau Wai Cheung
Sau Wai Cheung Baylor College of Medicine
Jennifer E. Posey
Jennifer E. Posey Baylor College of Medicine

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