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

Results: 9

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
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
Published in:
Human Genetics, 2022, v. 141, n. 11, p. 1795, doi. 10.1007/s00439-022-02459-4
By:
- Wu, Huan;
- Zhang, Xin;
- Hua, Rong;
- Li, Yuqian;
- Cheng, Li;
- Li, Kuokuo;
- Liu, Yiyuan;
- Gao, Yang;
- Shen, Qunshan;
- Wang, Guanxiong;
- Lv, Mingrong;
- Xu, Yuping;
- He, Xiaojin;
- Cao, Yunxia;
- Liu, Mingxi
Publication type:
Article
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.
Published in:
2022
By:
- Gallione, Carol J.;
- Detter, Matthew R.;
- Sheline, Adrienne;
- Christmas, Henrietta M.;
- Lee, Cornelia;
- Marchuk, Douglas A.
Publication type:
Editorial
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
Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
Published in:
Human Genetics, 2022, v. 141, n. 11, p. 1749, doi. 10.1007/s00439-022-02449-6
By:
- Slavotinek, Anne;
- Prasad, Hannah;
- Yip, Tiffany;
- Rego, Shannon;
- Hoban, Hannah;
- Kvale, Mark
Publication type:
Article
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
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
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
Evolutionary history of type II transmembrane serine proteases involved in viral priming.
Published in:
Human Genetics, 2022, v. 141, n. 11, p. 1705, doi. 10.1007/s00439-022-02435-y
By:
- Forni, Diego;
- Sironi, Manuela;
- Cagliani, Rachele
Publication type:
Article