Publications:

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: 6928A>C; Thr2310Pro

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: USH2A: T2310P

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Molecular Genetics & Genomic Medicine

Neuhaus, Christine C; Eisenberger, Tobias T; Decker, Christian C; Nagl, Sandra S; Blank, Cornelia C; Pfister, Markus M; Kennerknecht, Ingo I; Müller-Hofstede, Cornelie C; Charbel Issa, Peter P; Heller, Raoul R; Beck, Bodo B; Rüther, Klaus K; Mitter, Diana D; Rohrschneider, Klaus K; Steinhauer, Ute U; Korbmacher, Heike M HM; Huhle, Dagmar D; Elsayed, Solaf M SM; Taha, Hesham M HM; Baig, Shahid M SM; Stöhr, Heidi H; Preising, Markus M; Markus, Susanne S; Moeller, Fabian F; Lorenz, Birgit B; Nagel-Wolfrum, Kerstin K; Khan, Arif O AO; Bolz, Hanno J HJ

Publication Date: 2017-09

Variant appearance in text: USH2: 6928A>C

PubMed Link: 28944237

Variant Present in the following documents:

• Main text
• MGG3-5-531.pdf

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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

Publication Date: 2013-08-08

Variant appearance in text: USH2A: Thr2310Pro

PubMed Link: 23924366

Variant Present in the following documents:

• 1750-1172-8-122-S1.xlsx, sheet 1

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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

Publication Date: 2012-01

Variant appearance in text: USH2A: 6928A>C; Thr2310Pro

PubMed Link: 22135276

Variant Present in the following documents:

• jmedgenet-2011-100468-s5.pdf

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