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: 14453C>T; Pro4818Leu
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: 14453C>T; Pro4818Leu
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: USH2A: 14453C>T; Pro4818Leu
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: 14453C>T; Pro4818Leu; rs143344549
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Scientific Reports
Fuster-García, Carla C; García-García, Gema G; Jaijo, Teresa T; Fornés, Neus N; Ayuso, Carmen C; Fernández-Burriel, Miguel M; Sánchez-De la Morena, Ana A; Aller, Elena E; Millán, José M JM
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Human Genetics
Zhao, Li L; Wang, Feng F; Wang, Hui H; Li, Yumei Y; Alexander, Sharon S; Wang, Keqing K; Willoughby, Colin E CE; Zaneveld, Jacques E JE; Jiang, Lichun L; Soens, Zachry T ZT; Earle, Philip P; Simpson, David D; Silvestri, Giuliana G; Chen, Rui R
Publication Date: 2015-02
Variant appearance in text: USH2A: 14453C>T; Pro4818Leu
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Orphanet Journal Of Rare Diseases
Garcia-Garcia, Gema G; Aparisi, Maria J MJ; Jaijo, Teresa T; Rodrigo, Regina R; Leon, Ana M AM; Avila-Fernandez, Almudena A; Blanco-Kelly, Fiona F; Bernal, Sara S; Navarro, Rafael R; Diaz-Llopis, Manuel M; Baiget, Montserrat M; Ayuso, Carmen C; Millan, Jose M JM; Aller, Elena E
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