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: 10116T>A; Asn3372Lys

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: rs202172477

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports

Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-02-25

Variant appearance in text: USH2A: 10116T>A

PubMed Link: 32098976

Variant Present in the following documents:

• 41598_2020_60137_MOESM1_ESM.pdf

View BVdb publication page