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: 12697_12698del; Trp4233fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy.

Translational Vision Science & Technology

Charng, Jason J; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; Attia, Mary S MS; McAllister, Ian L IL; Constable, Ian J IJ; Mackey, David A DA; De Roach, John N JN; Chen, Fred K FK

Publication Date: 2020-09

Variant appearance in text: USH2A: 12697_12698del

PubMed Link: 32974081

Variant Present in the following documents:

• Main text
• tvst-9-10-9.pdf

View BVdb publication page