Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 12

Results: 8

Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1401, doi. 10.1007/s00439-024-02716-8

By:

Jayasinghe, Dovini;
Eshetie, Setegn;
Beckmann, Kerri;
Benyamin, Beben;
Lee, S. Hong

Publication type:

Article

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1465, doi. 10.1007/s00439-024-02715-9

By:

Lopes-Marques, Mónica;
Peixoto, M. João;
Cooper, David N.;
Prata, M. João;
Azevedo, Luísa;
Castro, L. Filipe C.

Publication type:

Article

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1499, doi. 10.1007/s00439-024-02713-x

By:

Martínez-Barrios, Estefanía;
Greco, Andrea;
Cruzalegui, José;
Cesar, Sergi;
Díez-Escuté, Nuria;
Cerralbo, Patricia;
Chipa, Fredy;
Zschaeck, Irene;
Slanovic, Leonel;
Mangas, Alipio;
Toro, Rocío;
Brugada, Josep;
Sarquella-Brugada, Georgia;
Campuzano, Oscar

Publication type:

Article

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1509, doi. 10.1007/s00439-024-02712-y

By:

Cortés-González, Vianney;
Rodriguez-Morales, Miguel;
Ataliotis, Paris;
Mayer, Claudine;
Plaisancié, Julie;
Chassaing, Nicolas;
Lee, Hane;
Rozet, Jean-Michel;
Cavodeassi, Florencia;
Fares Taie, Lucas

Publication type:

Article

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1459, doi. 10.1007/s00439-024-02711-z

By:

Jauss, Robin-Tobias;
Popp, Bernt;
Bachmann, Joachim;
Abou Jamra, Rami;
Platzer, Konrad

Publication type:

Article

Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1433, doi. 10.1007/s00439-024-02709-7

By:

Pu, Siyu;
Wang, Zhibo;
Tang, Xueyang;
Wang, Daoxi;
Yang, Xiaodong;
Jiang, Jun;
Deng, Yifan;
Xiang, Bo;
Yang, Jiayin;
Wang, Xiaoli;
Guo, Xuesong;
Sun, Miao;
Wang, Bin;
Chen, Jing

Publication type:

Article

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1445, doi. 10.1007/s00439-024-02708-8

By:

Sharma, Prashant;
McFadden, Jason R.;
Frost, F. Graeme;
Markello, Thomas C.;
Grange, Dorothy K.;
Introne, Wendy J.;
Gahl, William A.;
Malicdan, May Christine V.

Publication type:

Article

Germline copy number variants and endometrial cancer risk.

Published in:

Human Genetics, 2024, v. 143, n. 12, p. 1481, doi. 10.1007/s00439-024-02707-9

By:

Stylianou, Cassie E.;
Wiggins, George A. R.;
Lau, Vanessa L.;
Dennis, Joe;
Shelling, Andrew N.;
Wilson, Michelle;
Sykes, Peter;
Amant, Frederic;
Annibali, Daniela;
De Wispelaere, Wout;
Easton, Douglas F.;
Fasching, Peter A.;
Glubb, Dylan M.;
Goode, Ellen L.;
Lambrechts, Diether;
Pharoah, Paul D. P.;
Scott, Rodney J.;
Tham, Emma;
Tomlinson, Ian;
Bolla, Manjeet K.

Publication type:

Article