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: Arg1308Cys

PubMed Link: 37215093

Variant Present in the following documents:

• Main text
• main.pdf

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The landscape of tolerated genetic variation in humans and primates.

Biorxiv : The Preprint Server For Biology

Gao, Hong H; Hamp, Tobias T; Ede, Jeffrey J; Schraiber, Joshua G JG; McRae, Jeremy J; Singer-Berk, Moriel M; Yang, Yanshen Y; Dietrich, Anastasia A; Fiziev, Petko P; Kuderna, Lukas L; Sundaram, Laksshman L; Wu, Yibing Y; Adhikari, Aashish A; Field, Yair Y; Chen, Chen C; Batzoglou, Serafim S; Aguet, Francois F; Lemire, Gabrielle G; Reimers, Rebecca R; Balick, Daniel D; Janiak, Mareike C MC; Kuhlwilm, Martin M; Orkin, Joseph D JD; Manu, Shivakumara S; Valenzuela, Alejandro A; Bergman, Juraj J; Rouselle, Marjolaine M; Silva, Felipe Ennes FE; Agueda, Lidia L; Blanc, Julie J; Gut, Marta M; de Vries, Dorien D; Goodhead, Ian I; Harris, R Alan RA; Raveendran, Muthuswamy M; Jensen, Axel A; Chuma, Idriss S IS; Horvath, Julie J; Hvilsom, Christina C; Juan, David D; Frandsen, Peter P; de Melo, Fabiano R FR; Bertuol, Fabricio F; Byrne, Hazel H; Sampaio, Iracilda I; Farias, Izeni I; Valsecchi do Amaral, João J; Messias, Mariluce M; da Silva, Maria N F MNF; Trivedi, Mihir M; Rossi, Rogerio R; Hrbek, Tomas T; Andriaholinirina, Nicole N; Rabarivola, Clément J CJ; Zaramody, Alphonse A; Jolly, Clifford J CJ; Phillips-Conroy, Jane J; Wilkerson, Gregory G; Abee, Christian C; Simmons, Joe H JH; Fernandez-Duque, Eduardo E; Kanthaswamy, Ee E; Shiferaw, Fekadu F; Wu, Dongdong D; Zhou, Long L; Shao, Yong Y; Zhang, Guojie G; Keyyu, Julius D JD; Knauf, Sascha S; Le, Minh D MD; Lizano, Esther E; Merker, Stefan S; Navarro, Arcadi A; Batallion, Thomas T; Nadler, Tilo T; Khor, Chiea Chuen CC; Lee, Jessica J; Tan, Patrick P; Lim, Weng Khong WK; Kitchener, Andrew C AC; Zinner, Dietmar D; Gut, Ivo I; Melin, Amanda A; Guschanski, Katerina K; Schierup, Mikkel Heide MH; Beck, Robin M D RMD; Umapathy, Govindhaswamy G; Roos, Christian C; Boubli, Jean P JP; Lek, Monkol M; Sunyaev, Shamil S; O'Donnell, Anne A; Rehm, Heidi H; Xu, Jinbo J; Rogers, Jeffrey J; Marques-Bonet, Tomas T; Farh, Kyle Kai-How KK

Publication Date: 2023-05-02

Variant appearance in text: VWF: 3922C>T; Arg1308Cys

PubMed Link: 37205491

Variant Present in the following documents:

• media-2.xlsx, sheet 1

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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: 3922C>T; Arg1308Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Analysis of von Willebrand Disease in the "Heart of Europe".

Th Open : Companion Journal To Thrombosis And Haemostasis

Vangenechten, Inge I; Smejkal, Petr P; Zavrelova, Jiri J; Zapletal, Ondrej O; Wild, Alexander A; Michiels, Jan Jacques JJ; Berneman, Zwi Z; Blatny, Jan J; Batorova, Angelika A; Prigancova, Tatiana T; Penka, Miroslav M; Gadisseur, Alain A

Publication Date: 2022-10

Variant appearance in text: VWF: 3922C>T; Arg1308Cys

PubMed Link: 36299619

Variant Present in the following documents:

• 10-1055-s-0042-1757635-s22060029.pdf

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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: Arg1308Cys

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: R1308C

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: R1308C

PubMed Link: 35452508

Variant Present in the following documents:

• Main text
• advancesADV2022007216.pdf
• advancesADV2022007216-suppl1.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: R1308C

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

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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: R1308C

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: Arg1308Cys

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: R1308C

PubMed Link: 32573891

Variant Present in the following documents:

• Main text

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Pregnancy and delivery in women with von Willebrand disease.

European Journal Of Haematology

Castaman, Giancarlo G; James, Paula D PD

Publication Date: 2019-08

Variant appearance in text: VWF: R1308C

PubMed Link: 31107984

Variant Present in the following documents:

• Main text

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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: Arg1308Cys

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: 3922C>T; Arg1308Cys

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: R1308C

PubMed Link: 28924049

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: R1308C

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: Arg1308Cys

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: R1308C

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.pdf

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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: 3922C>T; R1308C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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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: Arg1308Cys

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: R1308C

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: R1308C

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: R1308C

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: R1308C

PubMed Link: 23970904

Variant Present in the following documents:

• Main text
• IJPEP2013-590329.pdf

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Changes of von Willebrand Factor during Pregnancy in Women with and without von Willebrand Disease.

Mediterranean Journal Of Hematology And Infectious Diseases

Castaman, Giancarlo G

Publication Date: 2013

Variant appearance in text: VWF: R1308C

PubMed Link: 23936623

Variant Present in the following documents:

• Main text

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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: R1308C

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: R1308C

PubMed Link: 23406206

Variant Present in the following documents:

• Main text

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Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD.

Blood

Flood, Veronica H VH; Gill, Joan Cox JC; Morateck, Patricia A PA; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Hoffmann, Raymond G RG; Montgomery, Robert R RR

Publication Date: 2011-02-10

Variant appearance in text: VWF: R1308C

PubMed Link: 21148813

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: R1308C

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: R1308C

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: R1308C

PubMed Link: 19407316

Variant Present in the following documents:

• Main text

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