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James R. Lupski
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Genetics
USA
2026
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Genetics and Molecular Biology
USA
2024

D-Index & Metrics

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

James R. Lupski publications per year

The chart shows the history of publications by James R. Lupski between 1984 and 2025, highlighting the no. of papers published in each year and offering an overview of the publication velocity of this scholar. James R. Lupski published across 42 years, from 1984 to 2025, averaging 24.5 papers a year. Output peaked at 54 publications in 2016. 69 of the 1,028 publications appeared in the last two years.

No. of publications
10 20 30 40 50
Bar chart. Horizontal axis: year, 1984 to 2025. Vertical axis: number of publications, 0 to 54. Peak 54 publications in 2016. 1984: 2 publications 1985: 1 publication 1986: 1 publication 1987: 1 publication 1988: 1 publication 1989: 1 publication 1990: 5 publications 1991: 16 publications 1992: 9 publications 1993: 17 publications 1994: 19 publications 1995: 14 publications 1996: 21 publications 1997: 16 publications 1998: 19 publications 1999: 20 publications 2000: 12 publications 2001: 24 publications 2002: 21 publications 2003: 25 publications 2004: 20 publications 2005: 36 publications 2006: 36 publications 2007: 30 publications 2008: 19 publications 2009: 29 publications 2010: 22 publications 2011: 22 publications 2012: 32 publications 2013: 39 publications 2014: 41 publications 2015: 51 publications 2016: 54 publications 2017: 44 publications 2018: 31 publications 2019: 43 publications 2020: 42 publications 2021: 50 publications 2022: 38 publications 2023: 35 publications 2024: 45 publications 2025: 24 publications
1984 2025

1,028 publications in total across all disciplines

View publications per year as a table
James R. Lupski: publications per year, 1984 to 2025
Year Publications
1984 2
1985 1
1986 1
1987 1
1988 1
1989 1
1990 5
1991 16
1992 9
1993 17
1994 19
1995 14
1996 21
1997 16
1998 19
1999 20
2000 12
2001 24
2002 21
2003 25
2004 20
2005 36
2006 36
2007 30
2008 19
2009 29
2010 22
2011 22
2012 32
2013 39
2014 41
2015 51
2016 54
2017 44
2018 31
2019 43
2020 42
2021 50
2022 38
2023 35
2024 45
2025 24
Total 1,028
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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.

No. of scientists
50 100 150 200
Bar chart with 67 bars. Horizontal axis: publications, 45–54 to 703+. Vertical axis: number of scientists, 0 to 217. Most scientists, 217, have 125–134 publications. The last bar groups every scientist with 703 publications or more. The highlighted bar, 703+ publications, is where this scientist sits. 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
45–54 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.

View publications distribution as a table
Number of Genetics scientists by publication count, Research.com 2026 ranking edition. Based on 4,342 ranked scientists.
Publications Scientists This scientist
45–54 6
55–64 10
65–74 35
75–84 84
85–94 102
95–104 151
105–114 175
115–124 203
125–134 217
135–144 205
145–154 193
155–164 188
165–174 170
175–184 178
185–194 164
195–204 173
205–214 159
215–224 134
225–234 143
235–244 105
245–254 114
255–264 92
265–274 88
275–284 87
285–294 80
295–304 62
305–314 75
315–324 67
325–334 60
335–344 52
345–354 40
355–364 48
365–374 47
375–384 46
385–394 31
395–404 27
405–414 40
415–424 30
425–434 43
435–444 29
445–454 14
455–464 28
465–474 21
475–484 21
485–494 22
495–504 17
505–514 12
515–524 11
525–534 8
535–544 8
545–554 14
555–564 4
565–574 11
575–584 5
585–594 11
595–604 12
605–614 7
615–624 6
625–634 10
635–644 9
645–654 10
655–664 6
665–674 6
675–684 6
685–694 4
695–702 6
703+ 100 858
Download as CSV

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.

No. of scientists
50 100 150
Bar chart with 61 bars. Horizontal axis: D-Index, 40–41 to 160+. Vertical axis: number of scientists, 0 to 191. Most scientists, 191, have 62–63 D-Index. The last bar groups every scientist with 160 D-Index or more. The highlighted bar, 160+ D-Index, is where this scientist sits. 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
40–41 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.

View D-Index distribution as a table
Number of Genetics scientists by D-index, Research.com 2026 ranking edition. Based on 4,342 ranked scientists.
D-Index Scientists This scientist
40–41 24
42–43 52
44–45 84
46–47 112
48–49 118
50–51 141
52–53 143
54–55 145
56–57 179
58–59 162
60–61 175
62–63 191
64–65 172
66–67 184
68–69 164
70–71 158
72–73 150
74–75 136
76–77 127
78–79 127
80–81 111
82–83 110
84–85 110
86–87 84
88–89 102
90–91 66
92–93 72
94–95 70
96–97 54
98–99 60
100–101 49
102–103 55
104–105 45
106–107 42
108–109 28
110–111 39
112–113 25
114–115 31
116–117 29
118–119 34
120–121 29
122–123 29
124–125 18
126–127 27
128–129 22
130–131 16
132–133 11
134–135 17
136–137 12
138–139 21
140–141 4
142–143 9
144–145 14
146–147 6
148–149 10
150–151 7
152–153 9
154–155 8
156–157 8
158–159 9
160+ 96 165
Download as CSV

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

External Links

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Best Scientists Citing James R. Lupski

Evan E. Eichler

Evan E. Eichler

University of Washington

Publications: 238

Nicholas Katsanis

Nicholas Katsanis

Galatea Bio Inc

Publications: 133

Stephen W. Scherer

Stephen W. Scherer

University of Toronto

Publications: 129

Edwin M. Stone

Edwin M. Stone

University of Iowa

Publications: 122

Jill A. Rosenfeld

Jill A. Rosenfeld

Baylor College of Medicine

Publications: 118

Michael E. Shy

Michael E. Shy

University of Iowa

Publications: 118

David Neil Cooper

David Neil Cooper

Cardiff University

Publications: 105

Rando Allikmets

Rando Allikmets

Columbia University

Publications: 102

Pawel Stankiewicz

Pawel Stankiewicz

Baylor College of Medicine

Publications: 102

Val C. Sheffield

Val C. Sheffield

University of Iowa

Publications: 96

Sau Wai Cheung

Sau Wai Cheung

Baylor College of Medicine

Publications: 92

Hakon Hakonarson

Hakon Hakonarson

Children's Hospital of Philadelphia

Publications: 92

Richard A. Gibbs

Richard A. Gibbs

Baylor College of Medicine

Publications: 88

Frans P.M. Cremers

Frans P.M. Cremers

Radboud University

Publications: 88

Wendy K. Chung

Wendy K. Chung

Columbia University

Publications: 84

Matthew E. Hurles

Matthew E. Hurles

Wellcome Sanger Institute

Publications: 82

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