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: 12569T>C; Val4190Ala

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_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: V4190A

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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: USH2A: 12569T>C

PubMed Link: 30948794

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42105.pdf

View BVdb publication page

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Scientific Reports

Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Romero-Pérez, Laura L; González-del Pozo, María M; Rodríguez-de la Rúa, Enrique E; Dopazo, Joaquín J; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2016-04-01

Variant appearance in text: USH2A: V4190A

PubMed Link: 27032803

Variant Present in the following documents:

• Main text
• srep23910.pdf

View BVdb publication page