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: 8575C>T; Arg2859Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: USH2A: R2859C; rs138087806

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Bmc Ophthalmology

Young, Su Ling SL; Stanton, Chloe M CM; Livesey, Benjamin J BJ; Marsh, Joseph A JA; Cackett, Peter D PD

Publication Date: 2022-03-26

Variant appearance in text: rs138087806

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.

Molecular Genetics & Genomic Medicine

Wonkam, Ambroise A; Lebeko, Kamogelo K; Mowla, Shaheen S; Noubiap, Jean Jacques JJ; Chong, Mike M; Pare, Guillaume G

Publication Date: 2021-03

Variant appearance in text: USH2A: 8575C>T; Arg2859Cys

PubMed Link: 33528103

Variant Present in the following documents:

• Main text
• MGG3-9-e1609.pdf

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Experience of targeted Usher exome sequencing as a clinical test.

Molecular Genetics & Genomic Medicine

Besnard, Thomas T; García-García, Gema G; Baux, David D; Vaché, Christel C; Faugère, Valérie V; Larrieu, Lise L; Léonard, Susana S; Millan, Jose M JM; Malcolm, Sue S; Claustres, Mireille M; Roux, Anne-Françoise AF

Publication Date: 2014-01

Variant appearance in text: USH2: 8575C>T

PubMed Link: 24498627

Variant Present in the following documents:

• Main text
• mgg30002-0030.pdf

View BVdb publication page