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: COL4A5: 4706G>A; Arg1569Gln
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: COL4A5: 4706G>A; Arg1569Gln
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear And Hearing
Tropitzsch, Anke A; Schade-Mann, Thore T; Gamerdinger, Philipp P; Dofek, Saskia S; Schulte, Björn B; Schulze, Martin M; Battke, Florian F; Fehr, Sarah S; Biskup, Saskia S; Heyd, Andreas A; Müller, Marcus M; Löwenheim, Hubert H; Vona, Barbara B; Holderried, Martin M
Publication Date: 2022
Variant appearance in text: COL4A5: 4706G>A; Arg1569Gln
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Plos One
Savige, Judith J; Storey, Helen H; Il Cheong, Hae H; Gyung Kang, Hee H; Park, Eujin E; Hilbert, Pascale P; Persikov, Anton A; Torres-Fernandez, Carmen C; Ars, Elisabet E; Torra, Roser R; Hertz, Jens Michael JM; Thomassen, Mads M; Shagam, Lev L; Wang, Dongmao D; Wang, Yanyan Y; Flinter, Frances F; Nagel, Mato M