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