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Ambry Genetics (United States)

AG

Statistics

Publications

881

Citations

116.8K

Authors

140

Location

Aliso Viejo, United States

Ambry Genetics (United States) is a company institution in Aliso Viejo, United States known for genetics, life sciences, and medical genetics.

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Publications

881

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 881 citations

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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

Fergus J. Couch, Hermela Shimelis, Chunling Hu et al. · JAMA Oncology · 2017 · 627 citations · Full text

, , +17

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

, , +17

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng et al. · The American Journal of Human Genetics · 2022 · 528 citations · Full text

, , +14

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 468 citations · Full text

, , +15

1–5 of 881

Authors

140

  1. ST
    Sha Tang

    Ambry Genetics (United States), United States

    198 publications · 9.3K citations

    55

    h-index

  2. EC
    Elizabeth Chao

    Ambry Genetics (United States), United States

    127 publications · 6.1K citations

    42

    h-index

  3. HL
    Holly LaDuca

    Ambry Genetics (United States), United States

    150 publications · 5K citations

    36

    h-index

  4. ZP
    Zöe Powis

    Ambry Genetics (United States), United States

    95 publications · 3K citations

    34

    h-index

  5. TP
    Tina Pesaran

    Ambry Genetics (United States), United States

    135 publications · 6.5K citations

    33

    h-index

1–5 of 140