Resultados de procura - Arunkanth Ankala

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  1. 1
    Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

    Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing por Yuan Xue, Arunkanth Ankala, William R. Wilcox, Madhuri Hegde

    Publicado 2014
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  2. 2
    A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

    A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield por Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora Jh Bean, Christin Collins, Alice Tanner, Madhuri Hegde

    Publicado 2014
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  3. 3
    Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human <i>DMD</i> gene

    Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human <i>DMD</i> gene por Arunkanth Ankala, Jordan N. Kohn, Anisha Hegde, Arjun P. Meka, Chin Lip Hon Ephrem, S. Hussain Askree, Shruti Bhide, Madhuri Hegde

    Publicado 2011
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  4. 4
    Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

    Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel por C. Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Lisa M. Keong, Anne Rutkowski, Susan Sparks, Carsten G. Bönnemann, Madhuri Hegde

    Publicado 2013
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  5. 5
    Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

    Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing por Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala, Kristin McDonald Gibson, Mark Bowser, Himanshu Sharma, Elizabeth Hynes, Madhuri Hegde, Avni Santani, Matthew S. Lebo, Birgit Funke

    Publicado 2016
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  6. 6
    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants por Tracy Brandt, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora Jh Bean, Arunkanth Ankala, Daniela del Gaudio, Amy Knight Johnson, Lisa M. Vincent, Caitlin Reavey, Amy Lai, Gabriele Richard, Jeanne Meck

    Publicado 2019
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  7. 7
    Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients

    Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients por Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice Tanner, Arunkanth Ankala, Thomas Schneider, Cristina da Silva, Randall Beadling, John Alexander, S. Hussain Askree, Zachary Whitt, Lora Jh Bean, Christin Collins, Satish V. Khadilkar, Pradnya Gaitonde, Rashna Dastur, Matthew Wicklund, Tahseen Mozaffar, Matthew Harms, Laura Rufibach, Plavi Mittal, Madhuri Hegde

    Publicado 2018
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  8. 8
    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen por U. Schwarze, Tim Cundy, Shawna M. Pyott, H. E. Christiansen, Madhuri Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen N. Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen M. Raney, Dusica Babovic‐Vuksanovic, Joan M. Stoler, Ziva Ben‐Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida I. Al‐Aqeel, Mark C. Hannibal, Lucas Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John D. Mahan, Rosemarie Smith, Kwame Anyane‐Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elise Davis, In S. Kim, Mary Ann Weis, David R. Eyre, Peter H. Byers

    Publicado 2012
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