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: Y4801X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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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: Tyr4801Term

PubMed Link: 27018795

Variant Present in the following documents:

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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Journal Of Medical Genetics

Le Quesne Stabej, Polona P; Saihan, Zubin Z; Rangesh, Nell N; Steele-Stallard, Heather B HB; Ambrose, John J; Coffey, Alison A; Emmerson, Jenny J; Haralambous, Elene E; Hughes, Yasmin Y; Steel, Karen P KP; Luxon, Linda M LM; Webster, Andrew R AR; Bitner-Glindzicz, Maria M

Publication Date: 2012-01

Variant appearance in text: USH2A: 14403C>G; Tyr4801X

PubMed Link: 22135276

Variant Present in the following documents:

• Main text
• jmedgenet-2011-100468.pdf

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Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

Molecular Vision

Xu, Wenjun W; Dai, Hanjun H; Lu, Tingting T; Zhang, Xiaohui X; Dong, Bing B; Li, Yang Y

Publication Date: 2011

Variant appearance in text: USH2A: 14403C>G

PubMed Link: 21686329

Variant Present in the following documents:

• mv-v17-1537.pdf

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