Rezultati pretrage - Felicia Hernandez

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  1. 1
    Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome

    Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome od Anthony Scott, Felicia Hernandez, Adam Chamberlin, Cathy Smith, Rachid Karam, Jacob O. Kitzman

    Izdano 2022
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  2. 2
    Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

    Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia od Felicia Hernandez, Robert Huether, Lester Carter, Tami Johnston, Jennifer Thompson, James R. Gossage, Elizabeth Chao, Aaron Elliott

    Izdano 2015
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  3. 3
    Saturation mapping of MUTYH variant effects using DNA repair reporters

    Saturation mapping of MUTYH variant effects using DNA repair reporters od Shelby L. Hemker, Ashley P.L. Marsh, Felicia Hernandez, Elena Glick, Gillian P. Clark, Alyssa Bashir, Kun Jiang, Jacob O. Kitzman

    Izdano 2025
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  4. 4
    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN od Shawn Fayer, Carolyn Horton, Jennifer N. Dines, Alan F. Rubin, Marcy E. Richardson, Kelly McGoldrick, Felicia Hernandez, Tina Pesaran, Rachid Karam, Brian H. Shirts, Douglas M. Fowler, Lea M. Starita

    Izdano 2021
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  5. 5
    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel od Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S. Hruska, Helio A. Costa, Katherine Lachlan, Joanne Ngeow, Jill S. Barnholtz‐Sloan, Kaitlin Sesock, Felicia Hernandez, Liying Zhang, Laura V. Milko, Sharon E. Plon, Madhuri Hegde, Charis Eng

    Izdano 2018
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