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: 5347T>G; Ser1783Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Journal Of Thrombosis And Haemostasis : Jth

Maas, Dominique P M S M DPMSM; Atiq, Ferdows F; Blijlevens, Nicole M A NMA; Brons, Paul P T PPT; Krouwel, Sandy S; Laros-van Gorkom, Britta A P BAP; Leebeek, Frank W G FWG; Nieuwenhuizen, Laurens L; Schoormans, Selene C M SCM; Simons, Annet A; Meijer, Daniëlle D; van Heerde, Waander L WL; Schols, Saskia E M SEM

Publication Date: 2022-02

Variant appearance in text: VWF: S1783A

PubMed Link: 34758185

Variant Present in the following documents:

• JTH-20-316.pdf

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Fibronectin binding to von Willebrand factor occurs via the A1 domain.

Research And Practice In Thrombosis And Haemostasis

Keesler, Daniel A DA; Slobodianuk, Tricia L TL; Kochelek, Caroline E CE; Skaer, Chad W CW; Haberichter, Sandra L SL; Flood, Veronica H VH

Publication Date: 2021-06

Variant appearance in text: VWF: S1783A

PubMed Link: 34136746

Variant Present in the following documents:

• RTH2-5-e12534.pdf

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Platelet adhesion and aggregate formation controlled by immobilised and soluble VWF.

Bmc Molecular And Cell Biology

Schneider, Matthias F MF; Fallah, Mohammad A MA; Mess, Christian C; Obser, Tobias T; Schneppenheim, Reinhard R; Alexander-Katz, Alfredo A; Schneider, Stefan W SW; Huck, Volker V

Publication Date: 2020-09-11

Variant appearance in text: VWF: S1783A

PubMed Link: 32917131

Variant Present in the following documents:

• 12860_2020_Article_309.pdf

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New developments in von Willebrand disease.

British Journal Of Haematology

Fogarty, Helen H; Doherty, Dearbhla D; O'Donnell, James S JS

Publication Date: 2020-11

Variant appearance in text: VWF: Ser1783Ala

PubMed Link: 32394456

Variant Present in the following documents:

• Main text

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Current issues in diagnosis and treatment of von Willebrand disease.

Research And Practice In Thrombosis And Haemostasis

Keesler, Daniel A DA; Flood, Veronica H VH

Publication Date: 2018-01

Variant appearance in text: VWF: Ser1783Ala

PubMed Link: 30046704

Variant Present in the following documents:

• Main text
• RTH2-2-34.pdf

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Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Blood Transfusion = Trasfusione Del Sangue

Berber, Ergul E; Ozbil, Mehmet M; Brown, Christine C; Baslar, Zafer Z; Caglayan, S Hande SH; Lillicrap, David D

Publication Date: 2017-10

Variant appearance in text: VWF: S1783A

PubMed Link: 27483487

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: VWF: 5347T>G; S1783A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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[The function and clinical value of Von Willebrand factor propeptide].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Yin, Jie J; Ruan, Changgeng C

Publication Date: 2015-10

Variant appearance in text: VWF: S1783A

PubMed Link: 26477774

Variant Present in the following documents:

• cjh-36-10-883.pdf

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Analysis of the role of von Willebrand factor, platelet glycoprotein VI-, and α2β1-mediated collagen binding in thrombus formation.

Blood

Shida, Yasuaki Y; Rydz, Natalia N; Stegner, David D; Brown, Christine C; Mewburn, Jeffrey J; Sponagle, Kate K; Danisment, Ozge O; Crawford, Bredon B; Vidal, Barbara B; Hegadorn, Carol A CA; Pruss, Cynthia M CM; Nieswandt, Bernhard B; Lillicrap, David D

Publication Date: 2014-09-11

Variant appearance in text: VWF: S1783A

PubMed Link: 25051961

Variant Present in the following documents:

• Main text

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Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Castaman, G G; Hillarp, A A; Goodeve, A A

Publication Date: 2014-05

Variant appearance in text: VWF: S1783A

PubMed Link: 24762278

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: S1783A

PubMed Link: 24385719

Variant Present in the following documents:

• TJH-29-313.pdf

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On the versatility of von Willebrand factor.

Mediterranean Journal Of Hematology And Infectious Diseases

Rauch, Antoine A; Wohner, Nikolett N; Christophe, Olivier D OD; Denis, Cécile V CV; Susen, Sophie S; Lenting, Peter J PJ

Publication Date: 2013

Variant appearance in text: VWF: S1783A

PubMed Link: 23936617

Variant Present in the following documents:

• mjhid-5-1-e2013046.pdf

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Translational medicine advances in von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth

Lillicrap, D D

Publication Date: 2013-06

Variant appearance in text: VWF: S1783A

PubMed Link: 23809112

Variant Present in the following documents:

• Main text

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The molecular characterization of von Willebrand disease: good in parts.

British Journal Of Haematology

James, P D PD; Lillicrap, D D

Publication Date: 2013-04

Variant appearance in text: VWF: S1783A

PubMed Link: 23406206

Variant Present in the following documents:

• Main text

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Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

Journal Of Thrombosis And Haemostasis : Jth

Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Bellissimo, D B DB; Friedman, K D KD; Haberichter, S L SL; Lentz, S R SR; Montgomery, R R RR

Publication Date: 2012-07

Variant appearance in text: VWF: S1783A

PubMed Link: 22507569

Variant Present in the following documents:

• Main text

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Implications for collagen I chain registry from the structure of the collagen von Willebrand factor A3 domain complex.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Brondijk, T Harma C TH; Bihan, Dominique D; Farndale, Richard W RW; Huizinga, Eric G EG

Publication Date: 2012-04-03

Variant appearance in text: VWF: S1783A

PubMed Link: 22440751

Variant Present in the following documents:

• Main text

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von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.

American Journal Of Hematology

James, Paula D PD; Lillicrap, David D

Publication Date: 2012-05

Variant appearance in text: VWF: S1783A

PubMed Link: 22389132

Variant Present in the following documents:

• Main text

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von Willebrand's disease diagnosis and laboratory issues.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Castaman, G G; Montgomery, R R RR; Meschengieser, S S SS; Haberichter, S L SL; Woods, A I AI; Lazzari, M A MA

Publication Date: 2010-07

Variant appearance in text: VWF: S1783A

PubMed Link: 20590859

Variant Present in the following documents:

• Main text

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Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Journal Of Thrombosis And Haemostasis : Jth

Flood, V H VH; Lederman, C A CA; Wren, J S JS; Christopherson, P A PA; Friedman, K D KD; Hoffmann, R G RG; Montgomery, R R RR

Publication Date: 2010-06

Variant appearance in text: VWF: S1783A

PubMed Link: 20345715

Variant Present in the following documents:

• Main text

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