Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: USH2A: 9751T>C; Cys3251Arg
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: USH2A: 9751T>C; Cys3251Arg
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: USH2A: 9751T>C; Cys3251Arg; rs527236118
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Nishiguchi, Koji M KM; Tearle, Richard G RG; Liu, Yangfan P YP; Oh, Edwin C EC; Miyake, Noriko N; Benaglio, Paola P; Harper, Shyana S; Koskiniemi-Kuendig, Hanna H; Venturini, Giulia G; Sharon, Dror D; Koenekoop, Robert K RK; Nakamura, Makoto M; Kondo, Mineo M; Ueno, Shinji S; Yasuma, Tetsuhiro R TR; Beckmann, Jacques S JS; Ikegawa, Shiro S; Matsumoto, Naomichi N; Terasaki, Hiroko H; Berson, Eliot L EL; Katsanis, Nicholas N; Rivolta, Carlo C
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Journal Of Medical Genetics
Aller, E E; Jaijo, T T; Beneyto, M M; Nájera, C C; Oltra, S S; Ayuso, C C; Baiget, M M; Carballo, M M; Antiñolo, G G; Valverde, D D; Moreno, F F; Vilela, C C; Collado, D D; Pérez-Garrigues, H H; Navea, A A; Millán, J M JM