Concepedia

Diagnostic Genomics

Diagnostic Genomics is a scholarly contribution within clinical genomics that comprises a method, model, framework, theory, construct, dataset, task, or metric specifically designed to enable or enhance the identification and interpretation of genetic variants underlying disease phenotypes.

669

Publications

47.6K

Citations

7.3K

Authors

1.8K

Institutions

Publications per year

2017–2026

335

Parents

Publications

669

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

, , +17

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

, , +17

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Ute I. Scholl, Weizhen Ji et al. · Proceedings of the National Academy of Sciences · 2009 · 1.3K citations · Full text

, , +17

Charting a course for genomic medicine from base pairs to bedside

Eric D. Green, Mark S. Guyer · Nature · 2011 · 913 citations · Full text

, , +11

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones et al. · The Lancet · 2014 · 792 citations · Full text

, , +17

1–5 of 669

Authors

7.3K

  1. PN
    Peter N. Robinson

    Charité - Universitätsmedizin Berlin, Germany

    13 publications · 2.7K citations

    13

    h-index

  2. WA
    William A. Gahl

    National Human Genome Research Institute, United States

    10 publications · 1K citations

    10

    h-index

  3. CJ
    Cynthia J. Tifft

    National Institutes of Health, United States

    9 publications · 976 citations

    9

    h-index

  4. MJ
    Muin J. Khoury

    Centers for Disease Control and Prevention, United States

    9 publications · 436 citations

    9

    h-index

  5. HV
    Helen V. Firth

    Wellcome Sanger Institute, United Kingdom

    9 publications · 2.4K citations

    9

    h-index

1–5 of 7.3K

Institutions

1.8K

  1. Radboud University Nijmegen

    Nijmegen, The Netherlands

    25 h-index

    223 publications

    31.8K citations

  2. Harvard University

    Cambridge, United States

    25 h-index

    101 publications

    10.3K citations

  3. National Institutes of Health

    Bethesda, United States

    25 h-index

    153 publications

    21.2K citations

  4. Inserm

    Paris, France

    25 h-index

    204 publications

    16.2K citations

  5. National Human Genome Research Institute

    Bethesda, United States

    24 h-index

    113 publications

    13.8K citations

  6. Radboud University Medical Center

    Nijmegen, The Netherlands

    23 h-index

    217 publications

    31.3K citations

  7. Baylor College of Medicine

    Houston, United States

    22 h-index

    209 publications

    110.2K citations

  8. Boston Children's Hospital

    Boston, United States

    19 h-index

    54 publications

    4.8K citations

1–8 of 1.8K

Venues

  1. Genetics in Medicine

    GIM · 59 publications · 5.8K citations

    40

    h-index

  2. European Journal of Human Genetics

    EJHG · 35 publications · 2.3K citations

    26

    h-index

  3. Human Mutation

    25 publications · 1.3K citations

    19

    h-index

  4. PubMed

    Repository · 20 publications · 601 citations

    16

    h-index

  5. Clinical Genetics

    15 publications · 625 citations

    14

    h-index

1–5