Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 11

Results: 10

Methodologies underpinning polygenic risk scores estimation: a comprehensive overview.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1265, doi. 10.1007/s00439-024-02710-0

By:

Ndong Sima, Carene Anne Alene;
Step, Kathryn;
Swart, Yolandi;
Schurz, Haiko;
Uren, Caitlin;
Möller, Marlo

Publication type:

Article

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1379, doi. 10.1007/s00439-024-02706-w

By:

Velde, Hedwig M.;
Vaseghi-Shanjani, Maryam;
Smits, Jeroen J.;
Ramakrishnan, Gayatri;
Oostrik, Jaap;
Wesdorp, Mieke;
Astuti, Galuh;
Yntema, Helger G.;
Hoefsloot, Lies;
Lanting, Cris P.;
Huynen, Martijn A.;
Lehman, Anna;
Turvey, Stuart E.;
Aten, E.;
van den Boogaard, M. J.;
Cals, F. L. J.;
van Dooren, M. F.;
Ebbens, F. A.;
Feenstra, I.;
Free, R. H.

Publication type:

Article

Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1253, doi. 10.1007/s00439-024-02705-x

By:

Wu, Youmei;
Lai, Ling;
Chen, Junyang;
Li, Xinzhu;
Hou, Jin

Publication type:

Article

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1341, doi. 10.1007/s00439-024-02704-y

By:

Robinson, Kelsey;
Parrish, Randy;
Adeyemo, Wasiu Lanre;
Beaty, Terri H.;
Butali, Azeez;
Buxó, Carmen J.;
Gowans, Lord J. J.;
Hecht, Jacqueline T.;
Moreno Uribe, Lina;
Murray, Jeffrey C.;
Shaw, Gary M.;
Weinberg, Seth M.;
Brand, Harrison;
Marazita, Mary L.;
Cutler, David J.;
Epstein, Michael P.;
Yang, Jingjing;
Leslie, Elizabeth J.

Publication type:

Article

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1323, doi. 10.1007/s00439-024-02703-z

By:

Baird, Daniel A.;
Mubeen, Hira;
Doganli, Canan;
Miltenburg, Jasmijn B.;
Thomsen, Oskar Kaaber;
Ali, Zafar;
Naveed, Tahir;
Rehman, Asif ur;
Baig, Shahid Mahmood;
Christensen, Søren Tvorup;
Farooq, Muhammad;
Larsen, Lars Allan

Publication type:

Article

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1353, doi. 10.1007/s00439-024-02702-0

By:

Cogan, Guillaume;
Zaki, Maha S.;
Issa, Mahmoud;
Keren, Boris;
Guillaud-Bataille, Marine;
Renaldo, Florence;
Isapof, Arnaud;
Lallemant, Pauline;
Stevanin, Giovanni;
Guillot-Noel, Lena;
Courtin, Thomas;
Buratti, Julien;
Freihuber, Cécile;
Gleeson, Joseph G.;
Howarth, Robyn;
Durr, Alexandra;
de Sainte Agathe, Jean-Madeleine;
Mignot, Cyril

Publication type:

Article

Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1293, doi. 10.1007/s00439-024-02700-2

By:

Tirelli, Matilde;
Bonfiglio, Ferdinando;
Cantalupo, Sueva;
Montella, Annalaura;
Avitabile, Marianna;
Maiorino, Teresa;
Diskin, Sharon J.;
Iolascon, Achille;
Capasso, Mario

Publication type:

Article

VCAT: an integrated variant function annotation tools.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1311, doi. 10.1007/s00439-024-02699-6

By:

Huang, Bi;
Fan, Cong;
Chen, Ken;
Rao, Jiahua;
Ou, Peihua;
Tian, Chong;
Yang, Yuedong;
Cooper, David N.;
Zhao, Huiying

Publication type:

Article

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1363, doi. 10.1007/s00439-024-02698-7

By:

Sidky, Ahmed M.;
Melo, Ana Rosa Vieira;
Kay, Teresa T.;
Raposo, Mafalda;
Lima, Manuela;
Monckton, Darren G.

Publication type:

Article

GBF1 deficiency causes cataracts in human and mouse.

Published in:

Human Genetics, 2024, v. 143, n. 11, p. 1281, doi. 10.1007/s00439-024-02697-8

By:

Jia, Weimin;
Zhang, Chenming;
Luo, Yalin;
Gao, Jing;
Yuan, Chao;
Zhang, Dazhi;
Zhou, Xiaopei;
Tan, Yongyao;
Wang, Shuang;
Chen, Zhuo;
Li, Guigang;
Zhang, Xianqin

Publication type:

Article