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: SIX5: 472G>A; Ala158Thr
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Advanced Genetics (Hoboken, N.J.)
Estrella, Elicia E; Rockowitz, Shira S; Thorne, Marielle M; Smith, Pressley P; Petit, Jeanette J; Zehnder, Veronica V; Yu, Richard N RN; Bauer, Stuart S; Berde, Charles C; Agrawal, Pankaj B PB; Beggs, Alan H AH; Gharavi, Ali G AG; Kunkel, Louis L; Brownstein, Catherine A CA
Publication Date: 2023-03
Variant appearance in text: SIX5: 472G>A; Ala158Thr
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sheppard, Sarah S; Biswas, Sawona S; Li, Mindy H MH; Jayaraman, Vijayakumar V; Slack, Ian I; Romasko, Edward J EJ; Sasson, Ariella A; Brunton, Joshua J; Rajagopalan, Ramakrishnan R; Sarmady, Mahdi M; Abrudan, Jenica L JL; Jairam, Sowmya S; DeChene, Elizabeth T ET; Ying, Xiahoan X; Choi, Jiwon J; Wilkens, Alisha A; Raible, Sarah E SE; Scarano, Maria I MI; Santani, Avni A; Pennington, Jeffrey W JW; Luo, Minjie M; Conlin, Laura K LK; Devkota, Batsal B; Dulik, Matthew C MC; Spinner, Nancy B NB; Krantz, Ian D ID
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
American Journal Of Human Genetics
Hoskins, Bethan E BE; Cramer, Carl H CH; Silvius, Derek D; Zou, Dan D; Raymond, Richard M RM; Orten, Dana J DJ; Kimberling, William J WJ; Smith, Richard J H RJ; Weil, Dominique D; Petit, Christine C; Otto, Edgar A EA; Xu, Pin-Xian PX; Hildebrandt, Friedhelm F