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: ABCA4: 950delG; G317fs

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Plos One

Corton, Marta M; Nishiguchi, Koji M KM; Avila-Fernández, Almudena A; Nikopoulos, Konstantinos K; Riveiro-Alvarez, Rosa R; Tatu, Sorina D SD; Ayuso, Carmen C; Rivolta, Carlo C

Publication Date: 2016

Variant appearance in text: ABCA4: 950delG; G317Afs*57

PubMed Link: 27031522

Variant Present in the following documents:

• pone.0153121.pdf

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Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Plos One

Corton, Marta M; Nishiguchi, Koji M KM; Avila-Fernández, Almudena A; Nikopoulos, Konstantinos K; Riveiro-Alvarez, Rosa R; Tatu, Sorina D SD; Ayuso, Carmen C; Rivolta, Carlo C

Publication Date: 2013

Variant appearance in text: ABCA4: 950delG

PubMed Link: 23940504

Variant Present in the following documents:

• Main text
• pone.0065574.pdf

View BVdb publication page