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: W3702X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Molecular Genetics & Genomic Medicine

Krawitz, Peter M PM; Schiska, Daniela D; Krüger, Ulrike U; Appelt, Sandra S; Heinrich, Verena V; Parkhomchuk, Dmitri D; Timmermann, Bernd B; Millan, Jose M JM; Robinson, Peter N PN; Mundlos, Stefan S; Hecht, Jochen J; Gross, Manfred M

Publication Date: 2014-09

Variant appearance in text: USH2A: Trp3702*

PubMed Link: 25333064

Variant Present in the following documents:

• Main text
• mgg30002-0393.pdf

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