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: VWF: 2516del; Gly839fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Blood

Lavin, Michelle M; Aguila, Sonia S; Schneppenheim, Sonja S; Dalton, Niall N; Jones, Kenneth L KL; O'Sullivan, Jamie M JM; O'Connell, Niamh M NM; Ryan, Kevin K; White, Barry B; Byrne, Mary M; Rafferty, Marie M; Doyle, Mairead M MM; Nolan, Margaret M; Preston, Roger J S RJS; Budde, Ulrich U; James, Paula P; Di Paola, Jorge J; O'Donnell, James S JS

Publication Date: 2017-11-23

Variant appearance in text: VWF: 2515delG; Gly839fs

PubMed Link: 28916584

Variant Present in the following documents:

• Main text

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Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Blood

Mannucci, Pier Mannuccio PM; Kempton, Christine C; Millar, Carolyn C; Romond, Edward E; Shapiro, Amy A; Birschmann, Ingvild I; Ragni, Margaret V MV; Gill, Joan Cox JC; Yee, Thynn Thynn TT; Klamroth, Robert R; Wong, Wing-Yen WY; Chapman, Miranda M; Engl, Werner W; Turecek, Peter L PL; Suiter, Tobias M TM; Ewenstein, Bruce M BM; ,

Publication Date: 2013-08-01

Variant appearance in text: VWF: 2516delG; G839EfsX4

PubMed Link: 23777763

Variant Present in the following documents:

• Main text

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