Search Results - Meredith Weaver

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  1. 1
    Somatic cancer variant curation and harmonization through consensus minimum variant level data

    Somatic cancer variant curation and harmonization through consensus minimum variant level data by Deborah Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, D. Williams Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan

    Published 2016
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  2. 2
    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

    Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene by Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas‐Wilson, Yue Si, Meredith Weaver, Angela M. Lager, Jixia Liu, Rachel Mangels, Selina S. Dwight, Matt W. Wright, Steven F. Dobrowolski, Karen Eilbeck, Gregory M. Enns, Annette Feigenbaum, Uta Lichter‐Konecki, Elaine Lyon, Marzia Pasquali, Michael S. Watson, Nenad Blau, Robert D. Steiner, William J. Craigen, Rong Mao

    Published 2018
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  3. 3
    ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

    ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation... by Edgar A. Rivera‐Muñoz, Laura V. Milko, Steven M. Harrison, Danielle R. Azzariti, C. Lisa Kurtz, Kristy Lee, Jessica L. Mester, Meredith Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E. Hershberger, Rong Mao, Robert D. Steiner, Lisa M. Vincent, Christa Lese Martin, Sharon E. Plon, Erin M. Ramos, Heidi L. Rehm, Michael S. Watson, Jonathan S. Berg

    Published 2018
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  4. 4
    A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

    A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation by Jessica Ezzell Hunter, Stephanie A. Irving, Leslie G. Biesecker, Adam H. Buchanan, Brian C. Jensen, Kristy Lee, Christa Lese Martin, Laura V. Milko, Kristin R. Muessig, Annie Niehaus, Julianne O’Daniel, Margaret Piper, Erin M. Ramos, Sheri D. Schully, Alan L. Scott, Anne Slavotinek, Nara Sobreira, Natasha T. Strande, Meredith Weaver, Elizabeth M. Webber, Marc S. Williams, Jonathan S. Berg, James P. Evans, Katrina A.B. Goddard

    Published 2016
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  5. 5
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation by Erica Andersen, Danielle R. Azzariti, Lawrence Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly, Adam H. Buchanan, Marina T. DiStefano, Li Gong, Steven M. Harrison, Jessica Ezzell Hunter, B Kattman, Teri E. Klein, Melissa Landrum, Kandamurugu Manickam, Alessandra Serrano Marroquin, Alastair J. Martin, Laura V. Milko, Aleksandar Milosavljevic, Joannella Morales, Tristan Nelson, Sharon E. Plon, Bradford C. Powell, Erin M. Ramos, Heidi L. Rehm, Erin Rooney Riggs, Deborah Ritter, Neethu Shah, Courtney Thaxton, Erik C. Thorland, Meredith Weaver, Phillip Weller, Matt W. Wright

    Published 2024
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