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: 7603C>T; Arg2535Ter

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: R2535*

PubMed Link: 35747851

Variant Present in the following documents:

• Main text
• hs9-6-e718.pdf

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Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Croatian Medical Journal

Lapić, Ivana I; Radić Antolic, Margareta M; Boban, Ana A; Coen Herak, Desiree D; Rogić, Dunja D; Zadro, Renata R

Publication Date: 2022-04-30

Variant appearance in text: VWF: 7603C>T; Arg2535Ter

PubMed Link: 35505650

Variant Present in the following documents:

• Main text
• CroatMedJ_63_0166.pdf

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Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Blood Advances

Baronciani, Luciano L; Peake, Ian I; Schneppenheim, Reinhard R; Goodeve, Anne A; Ahmadinejad, Minoo M; Badiee, Zahra Z; Baghaipour, Mohammad-Reza MR; Benitez, Olga O; Bodó, Imre I; Budde, Ulrich U; Cairo, Andrea A; Castaman, Giancarlo G; Eshghi, Peyman P; Goudemand, Jenny J; Hassenpflug, Wolf W; Hoorfar, Hamid H; Karimi, Mehran M; Keikhaei, Bijan B; Lassila, Riitta R; Leebeek, Frank W G FWG; Lopez Fernandez, Maria Fernanda MF; Mannucci, Pier Mannuccio PM; Marino, Renato R; Nikšić, Nikolas N; Oyen, Florian F; Santoro, Cristina C; Tiede, Andreas A; Toogeh, Gholamreza G; Tosetto, Alberto A; Trossaert, Marc M; Zetterberg, Eva M K EMK; Eikenboom, Jeroen J; Federici, Augusto B AB; Peyvandi, Flora F

Publication Date: 2021-08-10

Variant appearance in text: VWF: Arg2535*

PubMed Link: 34351388

Variant Present in the following documents:

• Main text

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: VWF: R2535*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: VWF: 7603C>T; Arg2535*; rs61751296

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis

Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C

Publication Date: 2018-01

Variant appearance in text: VWF: 7603C>T; R2535*; rs61751296

PubMed Link: 31249928

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Plos One

Manderstedt, Eric E; Nilsson, Rosanna R; Lind-Halldén, Christina C; Ljung, Rolf R; Astermark, Jan J; Halldén, Christer C

Publication Date: 2019

Variant appearance in text: VWF: 7603C>T; Arg2535Ter; rs61751296

PubMed Link: 31026269

Variant Present in the following documents:

• Main text
• pone.0216179.s001.xlsx, sheet 1
• pone.0216179.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: VWF: R2535X; rs61751296

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Association between Genetic Polymorphism and Risk of von Willebrand Disease in Pakistan.

Biomed Research International

Arshad, Najma N; Nawaz, Syed Kashif SK; Iqbal, Riffat R; Arshad, Muhammad M; Musheer, Farhana F; Naz, Amber A; Mushtaq, Iqra I; Jaleel, Sara S

Publication Date: 2017

Variant appearance in text: VWF: 7603C>T

PubMed Link: 29423401

Variant Present in the following documents:

• Main text
• BMRI2017-1070471.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: VWF: 7603C>T; rs61751296

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica

Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2017-12

Variant appearance in text: VWF: Arg2535Ter

PubMed Link: 28971901

Variant Present in the following documents:

• Main text
• 1022005.pdf

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Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Plos One

Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P

Publication Date: 2016

Variant appearance in text: VWF: R2535*

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.pdf

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Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One

Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: VWF: 7603C>T; R2535*

PubMed Link: 24675615

Variant Present in the following documents:

• Main text
• pone.0092575.pdf

View BVdb publication page

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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: 7603C>T; R2535X

PubMed Link: 23777763

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis

Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC

Publication Date: 2013-08

Variant appearance in text: VWF: 7603C>T; R2535*

PubMed Link: 23702511

Variant Present in the following documents:

• Main text

View BVdb publication page

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von Willebrand disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

James, Paula D PD; Goodeve, Anne C AC

Publication Date: 2011-05

Variant appearance in text: VWF: 7603C>T; Arg2535X

PubMed Link: 21289515

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.

Haematologica

Federici, Augusto B AB; Canciani, Maria T MT

Publication Date: 2009-05

Variant appearance in text: VWF: Arg2535X

PubMed Link: 19407316

Variant Present in the following documents:

• Main text

View BVdb publication page

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