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Psychology

D-Index
79
Citations
29707
World Ranking
1494
National Ranking
894

Overview

Raphael Bernier is affiliated with the University of Washington in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Neuroscience. Within these broad fields, their subfield expertise includes Cognitive Neuroscience, Genetics, Molecular Biology, Psychiatry and Mental Health, and Education.

Bernier's work focuses extensively on Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, and related topics such as Genomic Variations and Chromosomal Abnormalities, Child Development and Digital Technology, Attention Deficit Hyperactivity Disorder, Genomics and Rare Diseases, and Congenital Heart Defects Research.

Their scholarly output is disseminated through multiple frequent publication venues, including:

  • Autism Research
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Autism and Developmental Disorders
  • The American Journal of Human Genetics
  • UNC Libraries

Among their recent publications are:

  • Insufficient Evidence for "Autism-Specific" Genes, 2020, The American Journal of Human Genetics
  • A framework for an evidence-based gene list relevant to autism spectrum disorder, 2020, Nature Reviews Genetics
  • Recent ultra-rare inherited variants implicate new autism candidate risk genes, 2021, Nature Genetics
  • The Autism Biomarkers Consortium for Clinical Trials (ABC-CT): Scientific Context, Study Design, and Progress Toward Biomarker Qualification, 2020, Frontiers in Integrative Neuroscience
  • Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome, 2021, Nature Genetics

Their collaborative network includes frequent co-authors such as Sara Jane Webb, James C. McPartland, Evan E. Eichler, Shafali Jeste, and Adam Naples, with respective co-publication counts of 40, 36, 24, 24, and 24.

Best Publications

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

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

  • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

    Joseph T. Glessner;Kai Wang;Guiqing Cai;Olena Korvatska

  • 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

  • Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa

  • Common genetic variants on 5p14.1 associate with autism spectrum disorders

    Kai Wang;Haitao Zhang;Deqiong Ma;Maja Bucan

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

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

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • A multisite study of the clinical diagnosis of different autism spectrum disorders

    Catherine Lord;Eva Petkova;Eva Petkova;Vanessa Hus;Weijin Gan

  • Excess of rare, inherited truncating mutations in autism.

    Niklas Krumm;Tychele N. Turner;Carl Baker;Laura Vives

  • Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  • Children referred for possible sexual abuse: medical findings in 2384 children.

    Astrid Heger;Lynne Ticson;Oralia Velasquez;Raphael Bernier

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

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

  • EEG mu rhythm and imitation impairments in individuals with autism spectrum disorder.

    Raphael Bernier;Geraldine Dawson;Sara Jane Webb;Michael Murias

  • An autosomal genomic screen for autism. Collaborative linkage study of autism.

    Barrett S;Beck Jc;Bernier R;Bisson E

  • Recurrent de novo mutations implicate novel genes underlying simplex autism risk

    B. J. O'Roak;H. A. Stessman;E. A. Boyle;K. T. Witherspoon

  • Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

    Santhosh Girirajan;Zoran Brkanac;Bradley P. Coe;Carl Baker

  • An autosomal genomic screen for autism

    Stacey Barrett;John C. Beck;Raphael Bernier;Erica Bisson

  • A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

    Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  • Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

    Santhosh Girirajan;Megan Y. Dennis;Carl Baker;Maika Malig

  • Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.

    Bradley P. Coe;Holly A.F. Stessman;Arvis Sulovari;Madeleine R. Geisheker

  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

    Dalila Pinto;Elsa Delaby;Daniele Merico;Mafalda Barbosa

Frequent Co-Authors

Evan E. Eichler
Evan E. Eichler University of Washington
Geraldine Dawson
Geraldine Dawson Duke University
Sara Jane Webb
Sara Jane Webb Seattle Children's Hospital
Bradley P. Coe
Bradley P. Coe University of Washington
James C. McPartland
James C. McPartland Yale University
Robin P. Goin-Kochel
Robin P. Goin-Kochel Baylor College of Medicine
Wendy K. Chung
Wendy K. Chung Columbia University
Jozef Gecz
Jozef Gecz University of Adelaide
Corrado Romano
Corrado Romano I.R.C.C.S. Oasi Maria SS
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine

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