Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 5

Results: 8
    1
    2

    VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

    Published in:
    Human Genetics, 2024, v. 143, n. 5, p. 695, doi. 10.1007/s00439-024-02671-4
    By:
    • Hadar, Noam;
    • Dolgin, Vadim;
    • Oustinov, Katya;
    • Yogev, Yuval;
    • Poleg, Tomer;
    • Safran, Amit;
    • Freund, Ofek;
    • Agam, Nadav;
    • Jean, Matan M.;
    • Proskorovski-Ohayon, Regina;
    • Wormser, Ohad;
    • Drabkin, Max;
    • Halperin, Daniel;
    • Eskin-Schwartz, Marina;
    • Narkis, Ginat;
    • Sued-Hendrickson, Sufa;
    • Aminov, Ilana;
    • Gombosh, Maya;
    • Aharoni, Sarit;
    • Birk, Ohad S.
    Publication type:
    Article
    3
    4

    Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.

    Published in:
    Human Genetics, 2024, v. 143, n. 5, p. 683, doi. 10.1007/s00439-024-02669-y
    By:
    • Kopp, Johannes;
    • Koch, Leonard A.;
    • Lyubenova, Hristiana;
    • Küchler, Oliver;
    • Holtgrewe, Manuel;
    • Ivanov, Andranik;
    • Dubourg, Christele;
    • Launay, Erika;
    • Brachs, Sebastian;
    • Mundlos, Stefan;
    • Ehmke, Nadja;
    • Seelow, Dominik;
    • Fradin, Mélanie;
    • Kornak, Uwe;
    • Fischer-Zirnsak, Björn
    Publication type:
    Article
    5
    6

    Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

    Published in:
    Human Genetics, 2024, v. 143, n. 5, p. 649, doi. 10.1007/s00439-024-02664-3
    By:
    • Ferrer, Alejandro;
    • Duffy, Patrick;
    • Olson, Rory J.;
    • Meiners, Michael A.;
    • Schultz-Rogers, Laura;
    • Macke, Erica L.;
    • Safgren, Stephanie;
    • Morales-Rosado, Joel A.;
    • Cousin, Margot A.;
    • Oliver, Gavin R.;
    • Rider, David;
    • Williams, Megan;
    • Pichurin, Pavel N.;
    • Deyle, David R.;
    • Morava, Eva;
    • Gavrilova, Ralitza H.;
    • Dhamija, Radhika;
    • Wierenga, Klass J.;
    • Lanpher, Brendan C.;
    • Babovic-Vuksanovic, Dusica
    Publication type:
    Article
    7
    8

    The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

    Published in:
    Human Genetics, 2024, v. 143, n. 5, p. 721, doi. 10.1007/s00439-024-02648-3
    By:
    • Colbert, Brett M.;
    • Lanting, Cris;
    • Smeal, Molly;
    • Blanton, Susan;
    • Dykxhoorn, Derek M.;
    • Tang, Pei-Ciao;
    • Getchell, Richard L.;
    • Velde, Hedwig;
    • Fehrmann, Mirthe;
    • Thorpe, Ryan;
    • Chapagain, Prem;
    • Elkhaligy, Heidy;
    • Kremer, Hannie;
    • Yntema, Helger;
    • Haer-Wigman, Lonneke;
    • Redfield, Shelby;
    • Sun, Tieqi;
    • Bruijn, Saskia;
    • Plomp, Astrid;
    • Goderie, Thadé
    Publication type:
    Article