Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 2

Results: 7
    1

    Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.

    Published in:
    Human Genetics, 2019, v. 138, n. 2, p. 199, doi. 10.1007/s00439-019-01975-0
    By:
    • He, Karen Y.;
    • Li, Xiaoyin;
    • Kelly, Tanika N.;
    • Liang, Jingjing;
    • Cade, Brian E.;
    • Assimes, Themistocles L.;
    • Becker, Lewis C.;
    • Beitelshees, Amber L.;
    • Bress, Adam P.;
    • Chang, Yen-Pei Christy;
    • Chen, Yii-Der Ida;
    • de Vries, Paul S.;
    • Fox, Ervin R.;
    • Franceschini, Nora;
    • Furniss, Anna;
    • Gao, Yan;
    • Guo, Xiuqing;
    • Haessler, Jeffrey;
    • Hwang, Shih-Jen;
    • Irvin, Marguerite Ryan
    Publication type:
    Article
    2
    3

    Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

    Published in:
    Human Genetics, 2019, v. 138, n. 2, p. 187, doi. 10.1007/s00439-019-01972-3
    By:
    • Fichera, Marco;
    • Failla, Pinella;
    • Saccuzzo, Lucia;
    • Miceli, Martina;
    • Salvo, Eliana;
    • Castiglia, Lucia;
    • Galesi, Ornella;
    • Grillo, Lucia;
    • Calì, Francesco;
    • Greco, Donatella;
    • Amato, Carmelo;
    • Romano, Corrado;
    • Elia, Maurizio
    Publication type:
    Article
    4
    5
    6
    7

    Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.

    Published in:
    Human Genetics, 2019, v. 138, n. 2, p. 141, doi. 10.1007/s00439-018-01966-7
    By:
    • Almlöf, Jonas Carlsson;
    • Nystedt, Sara;
    • Leonard, Dag;
    • Eloranta, Maija-Leena;
    • Grosso, Giorgia;
    • Sjöwall, Christopher;
    • Bengtsson, Anders A.;
    • Jönsen, Andreas;
    • Gunnarsson, Iva;
    • Svenungsson, Elisabet;
    • Rönnblom, Lars;
    • Sandling, Johanna K.;
    • Syvänen, Ann-Christine
    Publication type:
    Article