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: FBN1: 1622G>T; Cys541Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Bonekey Reports

McInerney-Leo, Aideen M AM; Marshall, Mhairi S MS; Gardiner, Brooke B; Coucke, Paul J PJ; Van Laer, Lut L; Loeys, Bart L BL; Summers, Kim M KM; Symoens, Sofie S; West, Jennifer A JA; West, Malcolm J MJ; Paul Wordsworth, B B; Zankl, Andreas A; Leo, Paul J PJ; Brown, Matthew A MA; Duncan, Emma L EL

Publication Date: 2013

Variant appearance in text: FBN1: 1622G>T; C541F

PubMed Link: 24501682

Variant Present in the following documents:

• Main text

View BVdb publication page