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: W4713X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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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: 14139G>A; Trp4713X

PubMed Link: 22135276

Variant Present in the following documents:

• Main text
• jmedgenet-2011-100468.pdf
• jmedgenet-2011-100468-s5.pdf

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