Publications:

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: W2744C

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.

Molecular Medicine Reports

Zhu, Xiong X; Li, Xiao X; Tian, Wanli W; Yang, Yeming Y; Sun, Kuanxiang K; Li, Shuzhen S; Zhu, Xianjun X

Publication Date: 2020-07

Variant appearance in text: USH2A: W2744C

PubMed Link: 32319668

Variant Present in the following documents:

• Main text
• Supplementary_Data.pdf
• mmr-22-01-0193.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: USH2A: W2744C

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Plos One

Wu, Hong H; Feng, Yong Y; Jiang, Lu L; Pan, Qian Q; Liu, Yalan Y; Liu, Chang C; He, Chufeng C; Chen, Hongsheng H; Liu, Xueming X; Hu, Chang C; Hu, Yiqiao Y; Mei, Lingyun L

Publication Date: 2016

Variant appearance in text: USH2A: Trp2744Cys

PubMed Link: 27018795

Variant Present in the following documents:

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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Orphanet Journal Of Rare Diseases

Jiang, Lichun L; Liang, Xiaofang X; Li, Yumei Y; Wang, Jing J; Zaneveld, Jacques Eric JE; Wang, Hui H; Xu, Shan S; Wang, Keqing K; Wang, Binbin B; Chen, Rui R; Sui, Ruifang R

Publication Date: 2015-09-04

Variant appearance in text: USH2A: W2744C

PubMed Link: 26338283

Variant Present in the following documents:

• Main text
• 13023_2015_Article_329.pdf

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