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: E3107X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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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: E3107X

PubMed Link: 26338283

Variant Present in the following documents:

• Main text
• 13023_2015_Article_329.pdf

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Experience of targeted Usher exome sequencing as a clinical test.

Molecular Genetics & Genomic Medicine

Besnard, Thomas T; García-García, Gema G; Baux, David D; Vaché, Christel C; Faugère, Valérie V; Larrieu, Lise L; Léonard, Susana S; Millan, Jose M JM; Malcolm, Sue S; Claustres, Mireille M; Roux, Anne-Françoise AF

Publication Date: 2014-01

Variant appearance in text: USH2: 9319G>T

PubMed Link: 24498627

Variant Present in the following documents:

• mgg30002-0030.pdf

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