Search Results - Hemakumar M. Reddy

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  1. 1
    The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

    The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States by Hemakumar M. Reddy, Kyung‐Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang

    Published 2016
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  2. 2
    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing by Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Véronique Bolduc, Leigh B. Waddell, Sarah A. Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M. Reddy, Fengmei Zhao, Ben Weisburd, Konrad J. Karczewski, Anne O’Donnell‐Luria, Daniel Birnbaum, Anna Sárközy, Ying Hu, Hernán Gonorazky, Kristl G. Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark R. Davis, Nigel G. Laing, Ana Töpf, Peter B. Kang, Alan H. Beggs, Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur

    Published 2016
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  3. 3
    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing by Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Véronique Bolduc, Leigh B. Waddell, Sarah A. Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M. Reddy, Fengmei Zhao, Ben Weisburd, Konrad J. Karczewski, Anne O’Donnell‐Luria, Daniel Birnbaum, Anna Sárközy, Ying Hu, Hernán Gonorazky, Kristl G. Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark R. Davis, Nigel G. Laing, Ana Töpf, Peter B. Kang, Alan H. Beggs, Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur

    Published 2017
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