Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 4

Results: 6
    1

    High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.

    Published in:
    Human Genetics, 2018, v. 137, n. 4, p. 343, doi. 10.1007/s00439-018-1886-z
    By:
    • Lencz, Todd;
    • Yu, Jin;
    • Palmer, Cameron;
    • Carmi, Shai;
    • Ben-Avraham, Danny;
    • Barzilai, Nir;
    • Bressman, Susan;
    • Darvasi, Ariel;
    • Cho, Judy H.;
    • Clark, Lorraine N.;
    • Gümüş, Zeynep H.;
    • Joseph, Vijai;
    • Klein, Robert;
    • Lipkin, Steven;
    • Offit, Kenneth;
    • Ostrer, Harry;
    • Ozelius, Laurie J.;
    • Peter, Inga;
    • Atzmon, Gil;
    • Pe’er, Itsik
    Publication type:
    Article
    2
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    4
    5

    Loss of function mutations in <italic>VARS</italic> encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

    Published in:
    Human Genetics, 2018, v. 137, n. 4, p. 293, doi. 10.1007/s00439-018-1882-3
    By:
    • Stephen, Joshi;
    • Nampoothiri, Sheela;
    • Banerjee, Aditi;
    • Tolman, Nathanial J.;
    • Penninger, Josef Martin;
    • Elling, Ullrich;
    • Agu, Chukwuma A.;
    • Burke, John D.;
    • Devadathan, Kalpana;
    • Kannan, Rajesh;
    • Huang, Yan;
    • Steinbach, Peter J.;
    • Martinis, Susan A.;
    • Gahl, William A.;
    • Malicdan, May Christine V.
    Publication type:
    Article
    6