Concepedia

Developmental Disorder Genomics

Developmental Disorder Genomics is a scientific framework that systematically integrates genomic analysis with clinical phenotyping to identify and interpret genetic variants underlying neurodevelopmental and congenital disorders, distinguishing it from broader genomic medicine by its focused etiological and mechanistic exploration of developmental pathologies.

687

Publications

48.8K

Citations

8.9K

Authors

1.9K

Institutions

Publications per year

2017–2026

358

Parents

Publications

687

Large-scale discovery of novel genetic causes of developmental disorders

Nature · 2014 · 1.2K citations · Full text

, , +16

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

Amanda K. Ewart, Colleen A. Morris, Donald L. Atkinson et al. · Nature Genetics · 1993 · 1.2K citations

, , +12

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

Brett S. Abrahams, Dan E. Arking, Heather C. Mefford et al. · Molecular Autism · 2013 · 940 citations · Full text

, , +13

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

Mingfeng Li, Gabriel Santpere, Yuka Imamura Kawasawa et al. · Science · 2018 · 880 citations · Full text

, , +15

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

Maricela Alarcón, Brett S. Abrahams, Jennifer Stone et al. · The American Journal of Human Genetics · 2008 · 825 citations · Full text

, , +12

1–5 of 687

Authors

8.9K

  1. RP
    Rolph Pfundt

    Radboud University Nijmegen, Netherlands

    17 publications · 1.6K citations

    16

    h-index

  2. EE
    Evan E. Eichler

    University of Washington, United States

    17 publications · 2.9K citations

    15

    h-index

  3. NM
    Naomichi Matsumoto

    Yokohama City University, Japan

    16 publications · 901 citations

    15

    h-index

  4. HV
    Helen V. Firth

    Wellcome Sanger Institute, United Kingdom

    16 publications · 2K citations

    14

    h-index

  5. ME
    Matthew E. Hurles

    Wellcome Sanger Institute, United Kingdom

    16 publications · 2K citations

    14

    h-index

1–5 of 8.9K

Institutions

1.9K

  1. Inserm

    Paris, France

    34 h-index

    327 publications

    15K citations

  2. Harvard University

    Cambridge, United States

    31 h-index

    206 publications

    13.9K citations

  3. University of Washington

    Seattle, United States

    30 h-index

    180 publications

    27.3K citations

  4. University of Oxford

    Oxford, United Kingdom

    28 h-index

    106 publications

    16.4K citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    28 h-index

    216 publications

    23.2K citations

  6. Howard Hughes Medical Institute

    Chevy Chase, United States

    28 h-index

    104 publications

    16.8K citations

  7. University of Toronto

    Toronto, Canada

    27 h-index

    187 publications

    34K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    27 h-index

    119 publications

    6.9K citations

1–8 of 1.9K

Venues

  1. The American Journal of Human Genetics

    AJHG · 43 publications · 5.8K citations

    32

    h-index

  2. Genetics in Medicine

    GIM · 27 publications · 2.4K citations

    23

    h-index

  3. American Journal of Medical Genetics Part A

    37 publications · 1.6K citations

    20

    h-index

  4. Journal of Medical Genetics

    JMG · 20 publications · 1.7K citations

    19

    h-index

  5. Human Molecular Genetics

    20 publications · 1.8K citations

    18

    h-index

1–5