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: MYO7A: 3476G>T; Gly1159Val
Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: MYO7A: 3476G>T; Gly1159Val
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
American Journal Of Ophthalmology
Georgiou, Michalis M; Grewal, Parampal S PS; Narayan, Akshay A; Alser, Muath M; Ali, Naser N; Fujinami, Kaoru K; Webster, Andrew R AR; Michaelides, Michel M
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: MYO7A: 3476G>T; Gly1159Val; rs199897298
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: MYO7A: G1159V; rs199897298
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
American Journal Of Human Genetics
Azaiez, Hela H; Booth, Kevin T KT; Ephraim, Sean S SS; Crone, Bradley B; Black-Ziegelbein, Elizabeth A EA; Marini, Robert J RJ; Shearer, A Eliot AE; Sloan-Heggen, Christina M CM; Kolbe, Diana D; Casavant, Thomas T; Schnieders, Michael J MJ; Nishimura, Carla C; Braun, Terry T; Smith, Richard J H RJH
Publication Date: 2018-10-04
Variant appearance in text: MYO7A: 3476G>T; Gly1159Val
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
European Journal Of Human Genetics : Ejhg
Zazo Seco, Celia C; Wesdorp, Mieke M; Feenstra, Ilse I; Pfundt, Rolph R; Hehir-Kwa, Jayne Y JY; Lelieveld, Stefan H SH; Castelein, Steven S; Gilissen, Christian C; de Wijs, Ilse J IJ; Admiraal, Ronald Jc RJ; Pennings, Ronald Je RJ; Kunst, Henricus Pm HP; van de Kamp, Jiddeke M JM; Tamminga, Saskia S; Houweling, Arjan C AC; Plomp, Astrid S AS; Maas, Saskia M SM; de Koning Gans, Pia Am PA; Kant, Sarina G SG; de Geus, Christa M CM; Frints, Suzanna Gm SG; Vanhoutte, Els K EK; van Dooren, Marieke F MF; van den Boogaard, Marie-José H MH; Scheffer, Hans H; Nelen, Marcel M; Kremer, Hannie H; Hoefsloot, Lies L; Schraders, Margit M; Yntema, Helger G HG
Publication Date: 2017-02
Variant appearance in text: MYO7A: 3476G>T; Gly1159Val
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Human Genetics
Sloan-Heggen, Christina M CM; Bierer, Amanda O AO; Shearer, A Eliot AE; Kolbe, Diana L DL; Nishimura, Carla J CJ; Frees, Kathy L KL; Ephraim, Sean S SS; Shibata, Seiji B SB; Booth, Kevin T KT; Campbell, Colleen A CA; Ranum, Paul T PT; Weaver, Amy E AE; Black-Ziegelbein, E Ann EA; Wang, Donghong D; Azaiez, Hela H; Smith, Richard J H RJH
Publication Date: 2016-04
Variant appearance in text: MYO7A: 3476G>T; Gly1159Val