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D-Index & Metrics

Genetics

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

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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