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: CDH23: 3178C>T; Arg1060Trp
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Human Genetics
Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Acta Ophthalmologica
Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J
Publication Date: 2020-12
Variant appearance in text: CDH23: 3178C>T; Arg1060Trp
Nolen, Rosalie M RM; Hufnagel, Robert B RB; Friedman, Thomas B TB; Turriff, Amy E AE; Brewer, Carmen C CC; Zalewski, Christopher K CK; King, Kelly A KA; Wafa, Talah T TT; Griffith, Andrew J AJ; Brooks, Brian P BP; Zein, Wadih M WM
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: CDH23: R1060W; rs201536811
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Bmc Medical Genomics
Cabanillas, Rubén R; Diñeiro, Marta M; Cifuentes, Guadalupe A GA; Castillo, David D; Pruneda, Patricia C PC; Álvarez, Rebeca R; Sánchez-Durán, Noelia N; Capín, Raquel R; Plasencia, Ana A; Viejo-Díaz, Mónica M; García-González, Noelia N; Hernando, Inés I; Llorente, José L JL; Repáraz-Andrade, Alfredo A; Torreira-Banzas, Cristina C; Rosell, Jordi J; Govea, Nancy N; Gómez-Martínez, Justo Ramón JR; Núñez-Batalla, Faustino F; Garrote, José A JA; Mazón-Gutiérrez, Ángel Á; Costales, María M; Isidoro-García, María M; García-Berrocal, Belén B; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J
Publication Date: 2018-07-09
Variant appearance in text: CDH23: 3178C>T; Arg1060Trp
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Journal Of Medical Genetics
Le Quesne Stabej, Polona P; Saihan, Zubin Z; Rangesh, Nell N; Steele-Stallard, Heather B HB; Ambrose, John J; Coffey, Alison A; Emmerson, Jenny J; Haralambous, Elene E; Hughes, Yasmin Y; Steel, Karen P KP; Luxon, Linda M LM; Webster, Andrew R AR; Bitner-Glindzicz, Maria M
Development of a genotyping microarray for Usher syndrome.
Journal Of Medical Genetics
Cremers, Frans P M FP; Kimberling, William J WJ; Külm, Maigi M; de Brouwer, Arjan P AP; van Wijk, Erwin E; te Brinke, Heleen H; Cremers, Cor W R J CW; Hoefsloot, Lies H LH; Banfi, Sandro S; Simonelli, Francesca F; Fleischhauer, Johannes C JC; Berger, Wolfgang W; Kelley, Phil M PM; Haralambous, Elene E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR; Saihan, Zubin Z; De Baere, Elfride E; Leroy, Bart P BP; Silvestri, Giuliana G; McKay, Gareth J GJ; Koenekoop, Robert K RK; Millan, Jose M JM; Rosenberg, Thomas T; Joensuu, Tarja T; Sankila, Eeva-Marja EM; Weil, Dominique D; Weston, Mike D MD; Wissinger, Bernd B; Kremer, Hannie H
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Journal Of Medical Genetics
Roux, A-F AF; Faugère, V V; Le Guédard, S S; Pallares-Ruiz, N N; Vielle, A A; Chambert, S S; Marlin, S S; Hamel, C C; Gilbert, B B; Malcolm, S S; Claustres, M M; ,
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
American Journal Of Human Genetics
Astuto, L M LM; Bork, J M JM; Weston, M D MD; Askew, J W JW; Fields, R R RR; Orten, D J DJ; Ohliger, S J SJ; Riazuddin, S S; Morell, R J RJ; Khan, S S; Riazuddin, S S; Kremer, H H; van Hauwe, P P; Moller, C G CG; Cremers, C W R J CW; Ayuso, C C; Heckenlively, J R JR; Rohrschneider, K K; Spandau, U U; Greenberg, J J; Ramesar, R R; Reardon, W W; Bitoun, P P; Millan, J J; Legge, R R; Friedman, T B TB; Kimberling, W J WJ