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: Arg1374Cys

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: 4120C>T; Arg1374Cys

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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Harmonizing platelet function analyzer testing and reporting in a large laboratory network.

International Journal Of Laboratory Hematology

Favaloro, Emmanuel J EJ; Mohammed, Soma S; Vong, Ronny R; Chapman, Kent K; Kershaw, Geoffrey G; Just, Sarah S; Connelly, Lynne L; Ryan, Michael M; Zebeljan, Diane D; Brighton, Timothy T; Pasalic, Leonardo L

Publication Date: 2022-10

Variant appearance in text: VWF: R1374C

PubMed Link: 35754202

Variant Present in the following documents:

• IJLH-44-934.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: R1374C

PubMed Link: 35452508

Variant Present in the following documents:

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

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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: R1374C

PubMed Link: 35446929

Variant Present in the following documents:

• Main text
• advancesADV2021006757.pdf

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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: Arg1374Cys

PubMed Link: 34758185

Variant Present in the following documents:

• Main text
• JTH-20-316.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: 4120C>T; Arg1374Cys

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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Laboratory variability in the diagnosis of type 2 VWD variants.

Journal Of Thrombosis And Haemostasis : Jth

DiGiandomenico, Stefanie S; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Abshire, Thomas C TC; Montgomery, Robert R RR; Flood, Veronica H VH; ,

Publication Date: 2021-01

Variant appearance in text: VWF: R1374C

PubMed Link: 33049112

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R1374C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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: Arg1374Cys

PubMed Link: 32864553

Variant Present in the following documents:

• Main text
• RTH2-4-1024.pdf
• RTH2-4-1024-s004.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: 4120C>T; R1374C; rs61750071

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: 4120C>T; Arg1374Cys; rs61750071

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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Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Haematologica

Borràs, Nina N; Orriols, Gerard G; Batlle, Javier J; Pérez-Rodríguez, Almudena A; Fidalgo, Teresa T; Martinho, Patricia P; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Parra, Rafael R; Altisent, Carme C; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Mingot-Castellano, María Eva ME; Navarro, Nira N; Pérez-Montes, Rocío R; Marcellin, Sally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández-Mosteirín, Núria 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, Ruben R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Quismondo, Nerea Castro NC; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, 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; Dobón, Manuela M; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2019-03

Variant appearance in text: VWF: Arg1374Cys

PubMed Link: 30361419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers.

Research And Practice In Thrombosis And Haemostasis

Bowyer, Annette E AE; Goodfellow, Karen J KJ; Seidel, Holger H; Westhofen, Philipp P; Stufano, Francesca F; Goodeve, Anne A; Kitchen, Stephen S; Makris, Michael M

Publication Date: 2018-10

Variant appearance in text: VWF: R1374C

PubMed Link: 30349898

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combined effects of two mutations in von Willebrand disease 2M phenotype.

Research And Practice In Thrombosis And Haemostasis

Woods, Adriana I AI; Paiva, Juvenal J; Kempfer, Ana C AC; Primrose, Debora M DM; Blanco, Alicia N AN; Sanchez-Luceros, Analía A; Lazzari, María A MA

Publication Date: 2018-01

Variant appearance in text: VWF: Arg1374Cys

PubMed Link: 30046717

Variant Present in the following documents:

• Main text
• RTH2-2-162.pdf

View BVdb publication page

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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: Arg1374Cys

PubMed Link: 29924855

Variant Present in the following documents:

• Main text
• pone.0197876.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: 4120C>T; rs61750071

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: Arg1374Cys

PubMed Link: 28971901

Variant Present in the following documents:

• Main text
• 1022005.pdf
• 2017.168765.BORRAS_SUPPL.pdf

View BVdb publication page

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Clinical and laboratory phenotype variability in type 2M von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth

Doruelo, A L AL; Haberichter, S L SL; Christopherson, P A PA; Boggio, L N LN; Gupta, S S; Lentz, S R SR; Shapiro, A D AD; Montgomery, R R RR; Flood, V H VH

Publication Date: 2017-08

Variant appearance in text: VWF: R1374C

PubMed Link: 28544236

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnosing von Willebrand disease: genetic analysis.

Hematology. American Society Of Hematology. Education Program

Goodeve, Anne A

Publication Date: 2016-12-02

Variant appearance in text: VWF: Arg1374Cys

PubMed Link: 27913546

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg1374Cys

PubMed Link: 27766062

Variant Present in the following documents:

• Main text
• 12959_2016_Article_92.pdf

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: VWF: 4120C>T

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Variable bleeding phenotype in an Amish pedigree with von Willebrand disease.

American Journal Of Hematology

Gupta, Sweta S; Heiman, Meadow M; Duncan, Natalie N; Hinckley, Jesse J; Di Paola, Jorge J; Shapiro, Amy D AD

Publication Date: 2016-10

Variant appearance in text: VWF: 4120C>T; R1374C

PubMed Link: 27414491

Variant Present in the following documents:

• Main text

View BVdb publication page

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American Society of Pediatric Hematology/Oncology (ASPHO) Hyatt Regency Minneapolis Minneapolis, MN May 11-14, 2016.

Pediatric Blood & Cancer

Publication Date: 2016-06

Variant appearance in text: VWF: R1374C

PubMed Link: 27077670

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg1374Cys

PubMed Link: 26986123

Variant Present in the following documents:

• Main text
• medi-95-e3038.pdf

View BVdb publication page

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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: R1374C

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

View BVdb publication page

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Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits.

Molecular Genetics & Genomic Medicine

Hinckley, Jesse D JD; Abbott, Diana D; Burns, Trudy L TL; Heiman, Meadow M; Shapiro, Amy D AD; Wang, Kai K; Di Paola, Jorge J

Publication Date: 2013-09-01

Variant appearance in text: VWF: R1374C

PubMed Link: 24058921

Variant Present in the following documents:

• Main text
• mgg30001-0131.pdf

View BVdb publication page

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Collagen binding provides a sensitive screen for variant von Willebrand disease.

Clinical Chemistry

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

Publication Date: 2013-04

Variant appearance in text: VWF: R1374C

PubMed Link: 23340442

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods.

Haematologica

Corrales, Irene I; Catarino, Susana S; Ayats, Júlia J; Arteta, David D; Altisent, Carmen C; Parra, Rafael R; Vidal, Francisco F

Publication Date: 2012-07

Variant appearance in text: VWF: 4120C>T

PubMed Link: 22315491

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R1374C

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

View BVdb publication page

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