Concepedia

Trio Analysis

Trio Analysis is a genetic sequencing approach that involves the simultaneous analysis of both biological parents and an affected offspring to identify de novo and inherited variants contributing to rare monogenic disorders.

161

Publications

8.7K

Citations

1.4K

Authors

470

Institutions

Publications per year

2017–2026

91

Variants

Trio-based Analysis

Parents

Publications

161

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 981 citations · Full text

, , +17

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

, , +14

Mutations in EZH2 Cause Weaver Syndrome

William T. Gibson, Rebecca L. Hood, Shing H. Zhan et al. · The American Journal of Human Genetics · 2011 · 328 citations · Full text

, , +17

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Courtney E. French, Isabelle Delon, Helen Dolling et al. · Intensive Care Medicine · 2019 · 254 citations · Full text

, , +17

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Suzanne Drury, Hywel Williams, Natalie Trump et al. · Prenatal Diagnosis · 2015 · 228 citations · Full text

, , +17

1–5 of 161

Authors

1.4K

  1. TH
    Terri H. Beaty

    Johns Hopkins University, United States

    4 publications · 110 citations

    4

    h-index

  2. ZS
    Zornitza Stark

    Murdoch Children's Research Institute, Australia

    3 publications · 89 citations

    4

    h-index

  3. DA
    David A. Dyment

    Children's Hospital of Eastern Ontario, Canada

    3 publications · 304 citations

    3

    h-index

  4. BW
    Bingbing Wu

    Children's Hospital of Fudan University, China

    3 publications · 139 citations

    3

    h-index

  5. AP
    Annapurna Poduri

    Boston Children's Hospital, United States

    3 publications · 157 citations

    3

    h-index

1–5 of 1.4K

Institutions

470

  1. The University of Melbourne

    Melbourne, Australia

    8 h-index

    31 publications

    1.4K citations

  2. University College London

    London, United Kingdom

    7 h-index

    14 publications

    1.6K citations

  3. Johns Hopkins University

    Baltimore, United States

    6 h-index

    20 publications

    598 citations

  4. Murdoch Children's Research Institute

    Melbourne, Australia

    6 h-index

    29 publications

    1.4K citations

  5. Inserm

    Paris, France

    5 h-index

    29 publications

    635 citations

  6. Washington University in St. Louis

    St Louis, United States

    5 h-index

    7 publications

    419 citations

  7. Columbia University Irving Medical Center

    New York, United States

    5 h-index

    14 publications

    560 citations

  8. Wellcome Sanger Institute

    Cambridge, United Kingdom

    5 h-index

    23 publications

    1.8K citations

1–8 of 470

Venues

  1. European Journal of Human Genetics

    EJHG · 7 publications · 320 citations

    7

    h-index

  2. Genetics in Medicine

    GIM · 5 publications · 198 citations

    6

    h-index

  3. Orphanet Journal of Rare Diseases

    OJRD · 3 publications · 89 citations

    4

    h-index

  4. Scientific Reports

    4 publications · 214 citations

    4

    h-index

  5. The American Journal of Human Genetics

    AJHG · 4 publications · 605 citations

    4

    h-index

1–5