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: 14287G>C; Gly4763Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.

Molecular Vision

Shen, Chang C; You, Bing B; Chen, Yu-Ning YN; Li, Yang Y; Li, Wei W; Wei, Wen-Bin WB

Publication Date: 2022

Variant appearance in text: USH2A: G4763R

PubMed Link: 35814500

Variant Present in the following documents:

• Main text
• mv-v28-96.pdf

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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: G4763R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss.

Computational And Structural Biotechnology Journal

Yu, Dongmei D; Zou, Junhuang J; Chen, Qian Q; Zhu, Tian T; Sui, Ruifang R; Yang, Jun J

Publication Date: 2020

Variant appearance in text: USH2A: 14287G>C

PubMed Link: 32637036

Variant Present in the following documents:

• Main text
• main.pdf

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Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

Plos One

Chen, Xue X; Sheng, Xunlun X; Liu, Xiaoxing X; Li, Huiping H; Liu, Yani Y; Rong, Weining W; Ha, Shaoping S; Liu, Wenzhou W; Kang, Xiaoli X; Zhao, Kanxing K; Zhao, Chen C

Publication Date: 2014

Variant appearance in text: USH2A: G4763R

PubMed Link: 25133613

Variant Present in the following documents:

• Main text
• pone.0105439.pdf

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