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: 11062C>T; Pro3688Ser
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Nature Communications
Watkins, W Scott WS; Hernandez, E Javier EJ; Wesolowski, Sergiusz S; Bisgrove, Brent W BW; Sunderland, Ryan T RT; Lin, Edwin E; Lemmon, Gordon G; Demarest, Bradley L BL; Miller, Thomas A TA; Bernstein, Daniel D; Brueckner, Martina M; Chung, Wendy K WK; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Newburger, Jane W JW; Seidman, Christine E CE; Shen, Yufeng Y; Yost, H Joseph HJ; Yandell, Mark M; Tristani-Firouzi, Martin M
Publication Date: 2019-10-17
Variant appearance in text: USH2A: 11062C>T; Pro3688Ser; rs147214756