Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 1

Results: 11
    1

    Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 147, doi. 10.1007/s00439-021-02397-7
    By:
    • Fallerini, Chiara;
    • Picchiotti, Nicola;
    • Baldassarri, Margherita;
    • Zguro, Kristina;
    • Daga, Sergio;
    • Fava, Francesca;
    • Benetti, Elisa;
    • Amitrano, Sara;
    • Bruttini, Mirella;
    • Palmieri, Maria;
    • Croci, Susanna;
    • Lista, Mirjam;
    • Beligni, Giada;
    • Valentino, Floriana;
    • Meloni, Ilaria;
    • Tanfoni, Marco;
    • Minnai, Francesca;
    • Colombo, Francesca;
    • Cabri, Enrico;
    • Fratelli, Maddalena
    Publication type:
    Article
    2
    3
    4

    Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
    By:
    • Al-Hamed, Mohamed H.;
    • Kurdi, Wesam;
    • Khan, Rubina;
    • Tulbah, Maha;
    • AlNemer, Maha;
    • AlSahan, Nada;
    • AlMugbel, Maisoon;
    • Rafiullah, Rafiullah;
    • Assoum, Mirna;
    • Monies, Dorota;
    • Shah, Zeeshan;
    • Rahbeeni, Zuhair;
    • Derar, Nada;
    • Hakami, Fahad;
    • Almutairi, Gawaher;
    • AlOtaibi, Afaf;
    • Ali, Wafaa;
    • AlShammasi, Amal;
    • AlMubarak, Wardah;
    • AlDawoud, Samia
    Publication type:
    Article
    5
    6
    7

    Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 127, doi. 10.1007/s00439-021-02394-w
    By:
    • Longchamps, R. J.;
    • Yang, S. Y.;
    • Castellani, C. A.;
    • Shi, W.;
    • Lane, J.;
    • Grove, M. L.;
    • Bartz, T. M.;
    • Sarnowski, C.;
    • Liu, C.;
    • Burrows, K.;
    • Guyatt, A. L.;
    • Gaunt, T. R.;
    • Kacprowski, T.;
    • Yang, J.;
    • De Jager, P. L.;
    • Yu, L.;
    • Bergman, A.;
    • Xia, R.;
    • Fornage, M.;
    • Feitosa, M. F.
    Publication type:
    Article
    8
    9

    ASTL is mutated in female infertility.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 49, doi. 10.1007/s00439-021-02388-8
    By:
    • Maddirevula, Sateesh;
    • Coskun, Serdar;
    • Al-Qahtani, Mashael;
    • Aboyousef, Omar;
    • Alhassan, Saad;
    • Aldeery, Meshael;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
    10

    MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
    By:
    • Coursimault, Juliette;
    • Guerrot, Anne-Marie;
    • Morrow, Michelle M.;
    • Schramm, Catherine;
    • Zamora, Francisca Millan;
    • Shanmugham, Anita;
    • Liu, Shuxi;
    • Zou, Fanggeng;
    • Bilan, Frédéric;
    • Le Guyader, Gwenaël;
    • Bruel, Ange-Line;
    • Denommé-Pichon, Anne-Sophie;
    • Faivre, Laurence;
    • Tran Mau-Them, Frédéric;
    • Tessarech, Marine;
    • Colin, Estelle;
    • El Chehadeh, Salima;
    • Gérard, Bénédicte;
    • Schaefer, Elise;
    • Cogne, Benjamin
    Publication type:
    Article
    11

    Mitochondrial "dysmorphology" in variant classification.

    Published in:
    Human Genetics, 2022, v. 141, n. 1, p. 55, doi. 10.1007/s00439-021-02378-w
    By:
    • Shamseldin, Hanan E.;
    • Alhashem, Amal;
    • Tabarki, Brahim;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Sougrat, Rachid;
    • Alkuraya, Fowzan S.
    Publication type:
    Article