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: 13811+2T>G

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

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Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Plos One

Pérez-Carro, Raquel R; Blanco-Kelly, Fiona F; Galbis-Martínez, Lilián L; García-García, Gema G; Aller, Elena E; García-Sandoval, Blanca B; Mínguez, Pablo P; Corton, Marta M; Mahíllo-Fernández, Ignacio I; Martín-Mérida, Inmaculada I; Avila-Fernández, Almudena A; Millán, José M JM; Ayuso, Carmen C

Publication Date: 2018

Variant appearance in text: USH2A: 13811+2T>G

PubMed Link: 29912909

Variant Present in the following documents:

• Main text
• pone.0199048.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: 13811+2T>G

PubMed Link: 24498627

Variant Present in the following documents:

• Main text
• mgg30002-0030.pdf

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