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: 6986C>A; Pro2329His
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Communications Biology
Musolf, Anthony M AM; Haarman, Annechien E G AEG; Luben, Robert N RN; Ong, Jue-Sheng JS; Patasova, Karina K; Trapero, Rolando Hernandez RH; Marsh, Joseph J; Jain, Ishika I; Jain, Riya R; Wang, Paul Zhiping PZ; Lewis, Deyana D DD; Tedja, Milly S MS; Iglesias, Adriana I AI; Li, Hengtong H; Cowan, Cameron S CS; , ; Biino, Ginevra G; Klein, Alison P AP; Duggal, Priya P; Mackey, David A DA; Hayward, Caroline C; Haller, Toomas T; Metspalu, Andres A; Wedenoja, Juho J; Pärssinen, Olavi O; Cheng, Ching-Yu CY; Saw, Seang-Mei SM; Stambolian, Dwight D; Hysi, Pirro G PG; Khawaja, Anthony P AP; Vitart, Veronique V; Hammond, Christopher J CJ; van Duijn, Cornelia M CM; Verhoeven, Virginie J M VJM; Klaver, Caroline C W CCW; Bailey-Wilson, Joan E JE