Rezultaty - 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 od Yuan Xue, Arunkanth Ankala, William R. Wilcox, Madhuri Hegde

    Wydane 2014
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Revisão
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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 od Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora Jh Bean, Christin Collins, Alice Tanner, Madhuri Hegde

    Wydane 2014
    Dokumenty pełnotekstowe
    Artigo
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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 od Arunkanth Ankala, Jordan N. Kohn, Anisha Hegde, Arjun P. Meka, Chin Lip Hon Ephrem, S. Hussain Askree, Shruti Bhide, Madhuri Hegde

    Wydane 2011
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
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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 od C. Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Lisa M. Keong, Anne Rutkowski, Susan Sparks, Carsten G. Bönnemann, Madhuri Hegde

    Wydane 2013
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
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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 od 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

    Wydane 2016
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
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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 od 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

    Wydane 2019
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
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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 od 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

    Wydane 2018
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
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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 od 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

    Wydane 2012
    Dokumenty pełnotekstowe
    Artigo
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