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: 7028G>A; Arg2343Gln
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12
Variant appearance in text: USH2A: 7028G>A; R2343Q
Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability.
Nature Communications
Jäkel, Cornelia C; Bergmann, Frank F; Toth, Reka R; Assenov, Yassen Y; van der Duin, Daniel D; Strobel, Oliver O; Hank, Thomas T; Klöppel, Günter G; Dorrell, Craig C; Grompe, Markus M; Moss, Joshua J; Dor, Yuval Y; Schirmacher, Peter P; Plass, Christoph C; Popanda, Odilia O; Schmezer, Peter P