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: 15169A>T; Ile5057Phe

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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: rs542341955

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

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Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Human Genetics

Florentine, Michelle M MM; Rouse, Stephanie L SL; Stephans, Jihyun J; Conrad, David D; Czechowicz, Josephine J; Matthews, Ian R IR; Meyer, Anna K AK; Nadaraja, Garani S GS; Parikh, Rajan R; Virbalas, Jordan J; Weinstein, Jacqueline E JE; Chan, Dylan K DK

Publication Date: 2022-04

Variant appearance in text: USH2A: 15169A>T; I5057F

PubMed Link: 34515852

Variant Present in the following documents:

• 439_2021_2338_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page