World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
49
Citations
31461
World Ranking
3958
National Ranking
1708

Brian J. O'Roak 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 Brian J. O'Roak 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: 77 publications — 2nd percentile

2% of scientists in this discipline score the same or lower.

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

Brian J. O'Roak 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 Brian J. O'Roak 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: 49 D-Index — 9th percentile

9% 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

  • 2015 - Fellow of Alfred P. Sloan Foundation

Overview

Brian J. O'Roak is affiliated with Oregon Health & Science University in the United States. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with a strong focus on Genetics, Molecular Biology, and Cognitive Neuroscience. Additionally, they have contributed to studies in Infectious Diseases and Epidemiology.

The scientist's work covers several main topics, including Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Genomics and Rare Diseases, SARS-CoV-2 and COVID-19 Research, Congenital Heart Defects Research, Cancer Genomics and Diagnostics, and CRISPR and Genetic Engineering.

Brian J. O'Roak has published extensively in key academic venues. Frequent publication outlets include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Genetics
  • Nature Communications
  • The American Journal of Human Genetics
  • Developmental Medicine & Child Neurology

Their recent papers demonstrate ongoing research contributions in genetics and infectious diseases. Notable publications include:

  • Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes, 2022, Nature Genetics
  • Neutralization of SARS-CoV-2 variants by convalescent and BNT162b2 vaccinated serum, 2021, Nature Communications
  • Recent ultra-rare inherited variants implicate new autism candidate risk genes, 2021, Nature Genetics
  • High-content single-cell combinatorial indexing, 2021, Nature Biotechnology
  • Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort, 2021, Journal of Autism and Developmental Disorders

Frequent collaborators include Andrew Adey (11 publications), Rebecca Barnard (7 publications), Pamela Feliciano (6 publications), Irina Astrovskaya (6 publications), and Leo Brueggeman (6 publications).

In 2015, Brian J. O'Roak was recognized as a Fellow of the Alfred P. Sloan Foundation.

Best Publications

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M Witten;Preti Jain;Brian J O'Roak;Brian J O'Roak

  • The contribution of de novo coding mutations to autism spectrum disorder

    Ivan Iossifov;Brian J. O'Roak;Stephan J. Sanders;Stephan J. Sanders;Michael Ronemus

  • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

    Brian J. O’Roak;Laura Vives;Santhosh Girirajan;Emre Karakoc

  • Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    Stephan J. Sanders;A. Gulhan Ercan-Sencicek;Vanessa Hus;Rui Luo

  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

    Brian J. O’Roak;Laura Vives;Wenqing Fu;Jarrett D. Egertson

  • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

    Brian J O'Roak;Pelagia Deriziotis;Pelagia Deriziotis;Choli Lee;Laura Vives

  • Sequence variants in SLITRK1 are associated with Tourette's syndrome.

    Jesse F. Abelson;Kenneth Y. Kwan;Brian J. O'Roak;Danielle Y. Baek

  • Rare independent mutations in renal salt handling genes contribute to blood pressure variation

    Weizhen Ji;Jia Nee Foo;Brian J O'Roak;Hongyu Zhao

  • Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman

  • De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Gemma L Carvill;Sinéad B Heavin;Simone C Yendle;Jacinta M McMahon

  • Copy number variation detection and genotyping from exome sequence data

    Niklas Krumm;Peter H. Sudmant;Arthur Ko;Brian J. O'Roak

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  • Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

    Betul Bakkaloglu;Betul Bakkaloglu;Brian J. O'Roak;Angeliki Louvi;Abha R. Gupta

  • A de novo convergence of autism genetics and molecular neuroscience

    Niklas Krumm;Brian J. O’Roak;Jay Shendure;Evan E. Eichler

  • SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

    Pamela Feliciano;Amy M. Daniels;LeeAnne Green Snyder;Amy Beaumont

  • GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    Gemma L. Carvill;Brigid M. Regan;Simone C. Yendle;Brian J. O'Roak

  • L-histidine decarboxylase and Tourette's syndrome.

    A. Gulhan Ercan-Sencicek;Althea A. Stillman;Ananda K. Ghosh;Kaya Bilguvar

  • Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation.

    Joseph B. Hiatt;Colin C. Pritchard;Stephen J. Salipante;Brian J. O'Roak

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M. Witten;Gregory M. Cooper;Jay Shendure

Frequent Co-Authors

Jay Shendure
Jay Shendure University of Washington
Evan E. Eichler
Evan E. Eichler University of Washington
Raphael Bernier
Raphael Bernier University of Washington
Heather C. Mefford
Heather C. Mefford University of Washington
Matthew W. State
Matthew W. State University of California, San Francisco
Eric Fombonne
Eric Fombonne Oregon Health & Science University
Simon E. Fisher
Simon E. Fisher Max Planck Society
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Richard P. Lifton
Richard P. Lifton Rockefeller University
Carl Baker
Carl Baker National Institute of Arthritis and Musculoskeletal and Skin Diseases

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