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: Q3845X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Journal Of Medical Genetics

McGee, Terri L TL; Seyedahmadi, Babak Jian BJ; Sweeney, Meredith O MO; Dryja, Thaddeus P TP; Berson, Eliot L EL

Publication Date: 2010-07

Variant appearance in text: USH2: 11533C>T

PubMed Link: 20507924

Variant Present in the following documents:

• Main text

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Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Investigative Ophthalmology & Visual Science

Sandberg, Michael A MA; Rosner, Bernard B; Weigel-DiFranco, Carol C; McGee, Terri L TL; Dryja, Thaddeus P TP; Berson, Eliot L EL

Publication Date: 2008-12

Variant appearance in text: USH2A: 11533C>T; Gln3845X

PubMed Link: 18641288

Variant Present in the following documents:

• Main text

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