Works matching IS 03406717 AND DT 2022 AND VI 141 AND IP 11

Results: 9
    1

    Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

    Published in:
    Human Genetics, 2022, v. 141, n. 11, p. 1785, doi. 10.1007/s00439-022-02461-w
    By:
    • Neitzel, Heidemarie;
    • Varon, Raymonda;
    • Chughtai, Sana;
    • Dartsch, Josephine;
    • Dutrannoy-Tönsing, Véronique;
    • Nürnberg, Peter;
    • Nürnberg, Gudrun;
    • Schweiger, Michal;
    • Digweed, Martin;
    • Hildebrand, Gabriele;
    • Hackmann, Karl;
    • Holtgrewe, Manuel;
    • Sarioglu, Nanette;
    • Schulze, Bernt;
    • Horn, Denise;
    • Sperling, Karl
    Publication type:
    Article
    2
    3
    4

    The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.

    Published in:
    Human Genetics, 2022, v. 141, n. 11, p. 1697, doi. 10.1007/s00439-022-02452-x
    By:
    • Kumuthini, Judit;
    • Zick, Brittany;
    • Balasopoulou, Angeliki;
    • Chalikiopoulou, Constantina;
    • Dandara, Collet;
    • El-Kamah, Ghada;
    • Findley, Laura;
    • Katsila, Theodora;
    • Li, Rongling;
    • Maceda, Ebner Bon;
    • Monye, Henrietta;
    • Rada, Gabriel;
    • Thong, Meow-Keong;
    • Wanigasekera, Thilina;
    • Kennel, Hannah;
    • Marimuthu, Veeramani;
    • Williams, Marc S.;
    • Al-Mulla, Fahd;
    • Abramowicz, Marc
    Publication type:
    Article
    5
    6

    Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid.

    Published in:
    Human Genetics, 2022, v. 141, n. 11, p. 1739, doi. 10.1007/s00439-022-02442-z
    By:
    • Piekos, Jacqueline A.;
    • Hellwege, Jacklyn N.;
    • Zhang, Yanfei;
    • Torstenson, Eric S.;
    • Jarvik, Gail P.;
    • Dikilitas, Ozan;
    • Kullo, Iftikhar J.;
    • Schaid, Daniel J.;
    • Crosslin, David R.;
    • Pendergrass, Sarah A.;
    • Lee, Ming Ta Michael;
    • Roden, Dan;
    • Denny, Josh C.;
    • Edwards, Todd L.;
    • Velez Edwards, Digna R.
    Publication type:
    Article
    7

    Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.

    Published in:
    Human Genetics, 2022, v. 141, n. 11, p. 1723, doi. 10.1007/s00439-022-02441-0
    By:
    • Velde, Hedwig M.;
    • Reurink, Janine;
    • Held, Sebastian;
    • Li, Catherina H. Z.;
    • Yzer, Suzanne;
    • Oostrik, Jaap;
    • Weeda, Jack;
    • Haer-Wigman, Lonneke;
    • Yntema, Helger G.;
    • Roosing, Susanne;
    • Pauleikhoff, Laurenz;
    • Lange, Clemens;
    • Whelan, Laura;
    • Dockery, Adrian;
    • Zhu, Julia;
    • Keegan, David J.;
    • Farrar, G. Jane;
    • Kremer, Hannie;
    • Lanting, Cornelis P.;
    • Damme, Markus
    Publication type:
    Article
    8

    Monogenic causes of pigmentary mosaicism.

    Published in:
    Human Genetics, 2022, v. 141, n. 11, p. 1771, doi. 10.1007/s00439-022-02437-w
    By:
    • Saida, Ken;
    • Chong, Pin Fee;
    • Yamaguchi, Asuka;
    • Saito, Naka;
    • Ikehara, Hajime;
    • Koshimizu, Eriko;
    • Miyata, Rie;
    • Ishiko, Akira;
    • Nakamura, Kazuyuki;
    • Ohnishi, Hidenori;
    • Fujioka, Kei;
    • Sakakibara, Takafumi;
    • Asada, Hideo;
    • Ogawa, Kohei;
    • Kudo, Kyoko;
    • Ohashi, Eri;
    • Kawai, Michiko;
    • Abe, Yuichi;
    • Tsuchida, Naomi;
    • Uchiyama, Yuri
    Publication type:
    Article
    9