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: 3569G>A; Cys1190Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Hemasphere

Atiq, Ferdows F; Boender, Johan J; van Heerde, Waander L WL; Tellez Garcia, Juan M JM; Schoormans, Selene C SC; Krouwel, Sandy S; Cnossen, Marjon H MH; Laros-van Gorkom, Britta A P BAP; de Meris, Joke J; Fijnvandraat, Karin K; van der Bom, Johanna G JG; Meijer, Karina K; van Galen, Karin P M KPM; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2022-06

Variant appearance in text: VWF: C1190Y

PubMed Link: 35747851

Variant Present in the following documents:

• Main text
• hs9-6-e718.pdf

View BVdb publication page

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Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Blood Advances

Atiq, Ferdows F; Heijdra, Jessica J; Snijders, Fleur F; Boender, Johan J; Kempers, Eva E; van Heerde, Waander L WL; Maas, Dominique P M S M DPMSM; Krouwel, Sandy S; Schoormans, Selene C SC; de Meris, Joke J; Schols, Saskia E M SEM; van Galen, Karin P M KPM; van der Bom, Johanna G JG; Cnossen, Marjon H MH; Meijer, Karina K; Fijnvandraat, Karin K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2022-09-27

Variant appearance in text: VWF: C1190Y

PubMed Link: 35446929

Variant Present in the following documents:

• Main text
• advancesADV2021006757.pdf

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Quantitative 3D microscopy highlights altered von Willebrand factor α-granule storage in patients with von Willebrand disease with distinct pathogenic mechanisms.

Research And Practice In Thrombosis And Haemostasis

Swinkels, Maurice M; Atiq, Ferdows F; Bürgisser, Petra E PE; Slotman, Johan A JA; Houtsmuller, Adriaan B AB; de Heus, Cilia C; Klumperman, Judith J; Leebeek, Frank W G FWG; Voorberg, Jan J; Jansen, Arend Jan Gerard AJG; Bierings, Ruben R

Publication Date: 2021-08

Variant appearance in text: VWF: 3569G>A; C1190Y

PubMed Link: 34532631

Variant Present in the following documents:

• Main text
• RTH2-5-e12595.pdf

View BVdb publication page

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth

Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K

Publication Date: 2021-10

Variant appearance in text: VWF: 3569G>A; Cys1190Tyr

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Research And Practice In Thrombosis And Haemostasis

Vangenechten, Inge I; Gadisseur, Alain A

Publication Date: 2020-08

Variant appearance in text: VWF: Cys1190Tyr

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

View BVdb publication page

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Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.

Thrombosis And Haemostasis

de Jong, Annika A; Dirven, Richard J RJ; Boender, Johan J; Atiq, Ferdows F; Anvar, Seyed Yahya SY; Leebeek, Frank W G FWG; van Vlijmen, Bart J M BJM; Eikenboom, Jeroen J

Publication Date: 2020-11

Variant appearance in text: VWF: Cys1190Tyr

PubMed Link: 32803740

Variant Present in the following documents:

• Main text
• 10-1055-s-0040-1715442.pdf

View BVdb publication page

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