Publications:

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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: 2411G>T; Cys804Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.

Blood Advances

Butera, Diego D; Wang, Haoqing Jerry HJ; Woon, Heng-Giap HG; Zhao, Yunduo Charles YC; Ju, Lining Arnold Arnold LAA; Hogg, Philip P

Publication Date: 2022-10-14

Variant appearance in text: VWF: C804F

PubMed Link: 36240294

Variant Present in the following documents:

• Main text
• main.pdf
• BLOODA_ADV-2022-008650-mmc1.pdf

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Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances

Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA

Publication Date: 2022-06-28

Variant appearance in text: VWF: C804F

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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Solution structure of the major factor VIII binding region on von Willebrand factor.

Blood

Shiltagh, Nuha N; Kirkpatrick, John J; Cabrita, Lisa D LD; McKinnon, Tom A J TA; Thalassinos, Konstantinos K; Tuddenham, Edward G D EG; Hansen, D Flemming DF

Publication Date: 2014-06-26

Variant appearance in text: VWF: C804F

PubMed Link: 24700780

Variant Present in the following documents:

• Main text

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The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Berber, Ergül E

Publication Date: 2012-12

Variant appearance in text: VWF: C804F

PubMed Link: 24385719

Variant Present in the following documents:

• Main text
• TJH-29-313.pdf

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A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Haematologica

Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G

Publication Date: 2013-01

Variant appearance in text: VWF: C804F

PubMed Link: 22875612

Variant Present in the following documents:

• Main text

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