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: 14426C>T; Thr4809Ile
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-12
Variant appearance in text: USH2A: 14426C>T; Thr4809Ile
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Molecular Genetics & Genomic Medicine
Sheck, Leo H N LHN; Esposti, Simona D SD; Mahroo, Omar A OA; Arno, Gavin G; Pontikos, Nikolas N; Wright, Genevieve G; Webster, Andrew R AR; Khan, Kamron N KN; Michaelides, Michel M
Publication Date: 2021-03-22
Variant appearance in text: USH2A: 14426C>T; Thr4809Ile
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
European Journal Of Human Genetics : Ejhg
Lenassi, Eva E; Vincent, Ajoy A; Li, Zheng Z; Saihan, Zubin Z; Coffey, Alison J AJ; Steele-Stallard, Heather B HB; Moore, Anthony T AT; Steel, Karen P KP; Luxon, Linda M LM; Héon, Elise E; Bitner-Glindzicz, Maria M; Webster, Andrew R AR
Publication Date: 2015-10
Variant appearance in text: USH2A: 14426C>T; Thr4809Ile
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
Orphanet Journal Of Rare Diseases
Steele-Stallard, Heather B HB; Le Quesne Stabej, Polona P; Lenassi, Eva E; Luxon, Linda M LM; Claustres, Mireille M; Roux, Anne-Francoise AF; Webster, Andrew R AR; Bitner-Glindzicz, Maria M
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
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
European Journal Of Human Genetics : Ejhg
Ebermann, Inga I; Koenekoop, Robert K RK; Lopez, Irma I; Bou-Khzam, Lara L; Pigeon, Renée R; Bolz, Hanno J HJ