Publications:

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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: 9041C>A; Thr3014Asn

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: USH2A: T3014N; rs144892841

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: rs144892841

PubMed Link: 35346118

Variant Present in the following documents:

• 12886_2022_2353_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.

Ebiomedicine

Lam, Wai-Yee WY; Tang, Clara Sze-Man CS; So, Man-Ting MT; Yue, Haibing H; Hsu, Jacob Shujui JS; Chung, Patrick Ho-Yu PH; Nicholls, John M JM; Yeung, Fanny F; Lee, Chun-Wai Davy CD; Ngo, Diem Ngoc DN; Nguyen, Pham Anh Hoa PAH; Mitchison, Hannah M HM; Jenkins, Dagan D; O'Callaghan, Christopher C; Garcia-Barceló, Maria-Mercè MM; Lee, So-Lun SL; Sham, Pak-Chung PC; Lui, Vincent Chi-Hang VC; Tam, Paul Kwong-Hang PK

Publication Date: 2021-09

Variant appearance in text: USH2A: T3014N

PubMed Link: 34455394

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: T3014N

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page

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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: USH2A: 9041C>A

PubMed Link: 30948794

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.

Molecular Vision

Xiao, Xiaoqiang X; Cao, Yingjie Y; Chen, Shaowan S; Chen, Min M; Mai, Xiaoting X; Zheng, Yuqian Y; Zhuang, Xi X; Ng, Tsz Kin TK; Chen, Haoyu H

Publication Date: 2019

Variant appearance in text: USH2A: Thr3014Asn; rs144892841

PubMed Link: 30804660

Variant Present in the following documents:

• Main text
• mv-v25-35.pdf

View BVdb publication page

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