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: 8226+5G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Journal Of Medical Genetics

Miller, Kerry A KA; Twigg, Stephen R F SR; McGowan, Simon J SJ; Phipps, Julie M JM; Fenwick, Aimée L AL; Johnson, David D; Wall, Steven A SA; Noons, Peter P; Rees, Katie E M KE; Tidey, Elizabeth A EA; Craft, Judith J; Taylor, John J; Taylor, Jenny C JC; Goos, Jacqueline A C JA; Swagemakers, Sigrid M A SM; Mathijssen, Irene M J IM; van der Spek, Peter J PJ; Lord, Helen H; Lester, Tracy T; Abid, Noina N; Cilliers, Deirdre D; Hurst, Jane A JA; Morton, Jenny E V JE; Sweeney, Elizabeth E; Weber, Astrid A; Wilson, Louise C LC; Wilkie, Andrew O M AO

Publication Date: 2017-04

Variant appearance in text: FBN1: 8226+5G>A

PubMed Link: 27884935

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104215supp001.pdf
• jmedgenet-2016-104215supp003.pdf
• jmedgenet-2016-104215.pdf

View BVdb publication page