Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: USH2A: 13257_13263del; Phe4419fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies.

Diagnostics (Basel, Switzerland)

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Savastano, Maria Cristina MC; Minnella, Angelo Maria AM; Maceroni, Martina M; Midena, Giulia G; Ziccardi, Lucia L; Parisi, Vincenzo V; Bertelli, Matteo M; Maltese, Paolo Enrico PE; Chiurazzi, Pietro P; Rizzo, Stanislao S

Publication Date: 2021-02-01

Variant appearance in text: USH2A: 13257_13263del

PubMed Link: 33535592

Variant Present in the following documents:

• Main text
• diagnostics-11-00213.pdf

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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: 13257_13263del; F4419fs

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 8

View BVdb publication page