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: DMD: 8775G>A; Trp2925Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O

Publication Date: 2022-08-30

Variant appearance in text: DMD: W2925X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

View BVdb publication page

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One

Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW

Publication Date: 2013

Variant appearance in text: DMD: W2925X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

View BVdb publication page