Publications:

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A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays.

Research And Practice In Thrombosis And Haemostasis

Colpani, Paola P; Baronciani, Luciano L; Stufano, Francesca F; Cozzi, Giovanna G; Boscarino, Marco M; Pagliari, Maria Teresa MT; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2023-03

Variant appearance in text: VWF: Arg1306Trp

PubMed Link: 37215093

Variant Present in the following documents:

• Main text
• main.pdf

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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: 3916C>T; Arg1306Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Origin and timing of de novo variants implicated in type 2 von Willebrand disease.

Journal Of Cellular And Molecular Medicine

Chen, Ming M; Shen, Ming-Ching MC; Chang, Shun-Ping SP; Ma, Gwo-Chin GC; Huang, Ying-Chih YC; Lin, Ching-Yeh CY

Publication Date: 2022-11

Variant appearance in text: VWF: 3916C>T; Arg1306Trp

PubMed Link: 36226571

Variant Present in the following documents:

• Main text
• JCMM-26-5403.pdf

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The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.

Blood Advances

Ay, Cihan C; Pabinger, Ingrid I; Kovacevic, Katarina D KD; Gelbenegger, Georg G; Schörgenhofer, Christian C; Quehenberger, Peter P; Jilma-Stohlawetz, Petra P; Sunder-Plassman, Raute R; Gilbert, James C JC; Zhu, Shuhao S; Jilma, Bernd B; Derhaschnig, Ulla U

Publication Date: 2022-09-27

Variant appearance in text: VWF: R1306W

PubMed Link: 35772170

Variant Present in the following documents:

• Main text
• advancesADV2022007805.pdf

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Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances

Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2022-07-12

Variant appearance in text: VWF: R1306W

PubMed Link: 35452508

Variant Present in the following documents:

• advancesADV2022007216.pdf

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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: 3916C>T; R1306W

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

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Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.

Hemasphere

Boender, Johan J; Atiq, Ferdows F; Cnossen, Marjon H MH; van der Bom, Johanna G JG; Fijnvandraat, Karin K; de Meris, Joke J; de Maat, Moniek P M MPM; van Galen, Karin P M KPM; Laros-van Gorkom, Britta A P BAP; Meijer, Karina K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2021-03

Variant appearance in text: VWF: R1306W

PubMed Link: 33623884

Variant Present in the following documents:

• Main text

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Von Willebrand disease type 2B with a novel mutation in the VWF gene.

Annals Of Saudi Medicine

Jeraiby, Mohammed Abdullah MA; Sophie, Susen S; Caron, Claudine C; Campos, Lydia L; Brigitte, Tardy T

Publication Date: 2021

Variant appearance in text: VWF: R1306W

PubMed Link: 33550910

Variant Present in the following documents:

• 0256-4947.2021.59.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: VWF: R1306W

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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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: Arg1306Trp

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

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Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Journal Of Thrombosis And Haemostasis : Jth

Szederjesi, Attila A; Baronciani, Luciano L; Budde, Ulrich U; Castaman, Giancarlo G; Colpani, Paola P; Lawrie, Andrew S AS; Liu, Yuan Y; Montgomery, Robert R; Peyvandi, Flora F; Schneppenheim, Reinhard R; Patzke, Jürgen J; Bodó, Imre I

Publication Date: 2020-10

Variant appearance in text: VWF: R1306W

PubMed Link: 32573891

Variant Present in the following documents:

• Main text

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: VWF: 3916C>T; Arg1306Trp

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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Hyperactive GPIb-von Willebrand factor interaction as cause of thrombocytopenia: altered platelet formation versus clearance.

Haematologica

Freson, Kathleen K

Publication Date: 2019-07

Variant appearance in text: VWF: R1306W

PubMed Link: 31257206

Variant Present in the following documents:

• Main text

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Analytical characterization and reference interval of an enzyme-linked immunosorbent assay for active von Willebrand factor.

Plos One

van der Vorm, Lisa N LN; Li, Li L; Huskens, Dana D; Chayouâ, Walid W; Kelchtermans, Hilde H; de Groot, Philip G PG; Roest, Mark M; Remijn, Jasper A JA; de Laat, Bas B

Publication Date: 2019

Variant appearance in text: VWF: R1306W

PubMed Link: 30759116

Variant Present in the following documents:

• Main text
• pone.0211961.pdf

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Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Plos One

Pérez-Rodríguez, Almudena A; Batlle, Javier J; Corrales, Irene I; Borràs, Nina N; 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; Navarro, Nira N; Altisent, Carmen C; Pérez-Montes, Rocío R; Marcellini, Shally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández Mosteirín, Nuria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés Jacob, Aurora A; Fontanes, Emilia E; 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; Castro Quismondo, Nerea N; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Maria M; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Batlle, Fernando F; Vidal, Francisco F; López-Fernández, María Fernanda MF

Publication Date: 2018

Variant appearance in text: VWF: Arg1306Trp

PubMed Link: 29924855

Variant Present in the following documents:

• Main text
• pone.0197876.pdf

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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: 3916C>T; Arg1306Trp

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

The Journal Of Biological Chemistry

Interlandi, Gianluca G; Yakovenko, Olga O; Tu, An-Yue AY; Harris, Jeff J; Le, Jennie J; Chen, Junmei J; López, José A JA; Thomas, Wendy E WE

Publication Date: 2017-11-10

Variant appearance in text: VWF: R1306W

PubMed Link: 28924049

Variant Present in the following documents:

• Main text

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A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.

Journal Of Thrombosis And Haemostasis : Jth

Deng, W W; Wang, Y Y; Druzak, S A SA; Healey, J F JF; Syed, A K AK; Lollar, P P; Li, R R

Publication Date: 2017-09

Variant appearance in text: VWF: R1306W

PubMed Link: 28692141

Variant Present in the following documents:

• Main text

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Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue.

Plos One

Casonato, Alessandra A; Daidone, Viviana V; Galletta, Eva E; Bertomoro, Antonella A

Publication Date: 2017

Variant appearance in text: VWF: R1306W

PubMed Link: 28640903

Variant Present in the following documents:

• Main text
• pone.0179566.pdf

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De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.

Thrombosis Journal

Shen, Ming-Ching MC; Chen, Ming M; Ma, Gwo-Chin GC; Chang, Shun-Ping SP; Lin, Ching-Yeh CY; Lin, Bo-Do BD; Hsieh, Han-Ni HN

Publication Date: 2016

Variant appearance in text: VWF: Arg1306Trp

PubMed Link: 27766062

Variant Present in the following documents:

• Main text

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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: R1306W

PubMed Link: 27532107

Variant Present in the following documents:

• Main text

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A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation.

Scientific Reports

Adam, Frédéric F; Casari, Caterina C; Prévost, Nicolas N; Kauskot, Alexandre A; Loubière, Cécile C; Legendre, Paulette P; Repérant, Christelle C; Baruch, Dominique D; Rosa, Jean-Philippe JP; Bryckaert, Marijke M; de Groot, Philip G PG; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV

Publication Date: 2016-05-23

Variant appearance in text: VWF: R1306W

PubMed Link: 27212476

Variant Present in the following documents:

• srep26306.pdf

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A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Medicine

Veyradier, Agnès A; Boisseau, Pierre P; Fressinaud, Edith E; Caron, Claudine C; Ternisien, Catherine C; Giraud, Mathilde M; Zawadzki, Christophe C; Trossaert, Marc M; Itzhar-Baïkian, Nathalie N; Dreyfus, Marie M; d'Oiron, Roseline R; Borel-Derlon, Annie A; Susen, Sophie S; Bezieau, Stéphane S; Denis, Cécile V CV; Goudemand, Jenny J; ,

Publication Date: 2016-03

Variant appearance in text: VWF: Arg1306Trp

PubMed Link: 26986123

Variant Present in the following documents:

• Main text
• medi-95-e3038.pdf

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[The research progress of Von Willebrand disease].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Yin, Jie J; Ruan, Changgeng C

Publication Date: 2015-07

Variant appearance in text: VWF: R1306W

PubMed Link: 26304092

Variant Present in the following documents:

• cjh-36-07-616.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: VWF: R1306W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

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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: R1306W

PubMed Link: 24385719

Variant Present in the following documents:

• Main text
• TJH-29-313.pdf

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Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease.

International Journal Of Peptides

Paro, Marina de Oliveira Mde O; Ferreira, Cyntia Silva CS; Vieira, Fernanda Silva FS; de Santana, Marcos Aurélio MA; Castro-Borges, William W; Namen-Lopes, Maria Sueli Silva MS; Leclercq, Sophie Yvette SY; Velloso-Rodrigues, Cibele C; Guerra de Andrade, Milton Hércules MH

Publication Date: 2013

Variant appearance in text: VWF: R1306W

PubMed Link: 23970904

Variant Present in the following documents:

• Main text
• IJPEP2013-590329.pdf

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Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.

Mediterranean Journal Of Hematology And Infectious Diseases

Casari, Caterina C; Lenting, Peter J PJ; Christophe, Olivier D OD; Denis, Cécile V CV

Publication Date: 2013

Variant appearance in text: VWF: R1306W

PubMed Link: 23936618

Variant Present in the following documents:

• Main text

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von Willebrand's disease: a report from a meeting in the Åland islands.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Berntorp, E E; Peake, I I; Budde, U U; Laffan, M M; Montgomery, R R; Windyga, J J; Goodeve, A A; Petrini, P P; von Depka, M M; Miesbach, W W; Lillicrap, D D; Federici, A B AB; Lassila, R R; White, G G

Publication Date: 2012-09

Variant appearance in text: VWF: R1306W

PubMed Link: 22906074

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: R1306W

PubMed Link: 22389132

Variant Present in the following documents:

• Main text

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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: 3916C>T; Arg1306Trp

PubMed Link: 21289515

Variant Present in the following documents:

• Main text

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Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia.

Haematologica

Casonato, Alessandra A; Gallinaro, Lisa L; Cattini, Maria Grazia MG; Pontara, Elena E; Padrini, Roberto R; Bertomoro, Antonella A; Daidone, Viviana V; Pagnan, Antonio A

Publication Date: 2010-08

Variant appearance in text: VWF: R1306W

PubMed Link: 20305138

Variant Present in the following documents:

• Main text

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Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine

Torres, Richard R; Fedoriw, Yuri Y

Publication Date: 2009-06

Variant appearance in text: VWF: R1306W

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

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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: R1306W

PubMed Link: 19407316

Variant Present in the following documents:

• Main text

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