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: 11261G>T; Gly3754Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.

Scientific Reports

Ng, Tsz Kin TK; Tang, Wenyu W; Cao, Yingjie Y; Chen, Shaowan S; Zheng, Yuqian Y; Xiao, Xiaoqiang X; Chen, Haoyu H

Publication Date: 2019-04-04

Variant appearance in text: USH2: 11261G>T

PubMed Link: 30948794

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42105.pdf

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