Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: FGD1: 935C>T; Pro312Leu
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Npj Genomic Medicine
Fadaie, Zeinab Z; Whelan, Laura L; Ben-Yosef, Tamar T; Dockery, Adrian A; Corradi, Zelia Z; Gilissen, Christian C; Haer-Wigman, Lonneke L; Corominas, Jordi J; Astuti, Galuh D N GDN; de Rooij, Laura L; van den Born, L Ingeborgh LI; Klaver, Caroline C W CCW; Hoyng, Carel B CB; Wynne, Niamh N; Duignan, Emma S ES; Kenna, Paul F PF; Cremers, Frans P M FPM; Farrar, G Jane GJ; Roosing, Susanne S
Publication Date: 2021-11-18
Variant appearance in text: FGD1: 935C>T; Pro312Leu
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Genetics Research
Zanetti Drumond, Victor V; Sousa Salgado, Lucas L; Sousa Salgado, Camila C; Oliveira, Vitor Augusto de Lima VAL; de Assis, Eliene Magda EM; Campos Ribeiro, Michel M; Furtado Valadão, Analina A; Orrico, Alfredo A
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.
Molecular Genetics & Genomic Medicine
Pérez-Coria, Mariana M; Lugo-Trampe, José J JJ; Zamudio-Osuna, Michell M; Rodríguez-Sánchez, Iram P IP; Lugo-Trampe, Angel A; de la Fuente-Cortez, Beatriz B; Campos-Acevedo, Luis D LD; Martínez-de-Villarreal, Laura E LE
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: FGD1: P312L; rs28935498