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: 871G>T; Glu291Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Molecular Genetics & Genomic Medicine

Cope, Heidi H; Spillmann, Rebecca R; Rosenfeld, Jill A JA; Brokamp, Elly E; Signer, Rebecca R; Schoch, Kelly K; Kelley, Emily G EG; Sullivan, Jennifer A JA; Macnamara, Ellen E; Lincoln, Sharyn S; Golden-Grant, Katie K; , ; Orengo, James P JP; Clark, Gary G; Burrage, Lindsay C LC; Posey, Jennifer E JE; Punetha, Jaya J; Robertson, Amy A; Cogan, Joy J; Phillips, John A JA; Martinez-Agosto, Julian J; Shashi, Vandana V

Publication Date: 2020-10

Variant appearance in text: FBN1: 871G>T; E291X

PubMed Link: 32730690

Variant Present in the following documents:

• Main text
• MGG3-8-e1397.pdf

View BVdb publication page