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: 8063C>T; Ser2688Phe

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.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: rs1205473124

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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: S2688F

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Molecular Genetics & Genomic Medicine

Krawitz, Peter M PM; Schiska, Daniela D; Krüger, Ulrike U; Appelt, Sandra S; Heinrich, Verena V; Parkhomchuk, Dmitri D; Timmermann, Bernd B; Millan, Jose M JM; Robinson, Peter N PN; Mundlos, Stefan S; Hecht, Jochen J; Gross, Manfred M

Publication Date: 2014-09

Variant appearance in text: USH2A: 8063C>T

PubMed Link: 25333064

Variant Present in the following documents:

• Main text
• mgg30002-0393.pdf

View BVdb publication page