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: 4135C>T; Arg1379Cys

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: 4135C>T; Arg1379Cys

PubMed Link: 36299619

Variant Present in the following documents:

• 10-1055-s-0042-1757635-s22060029.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: R1379C

PubMed Link: 35452508

Variant Present in the following documents:

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

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Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances

Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA

Publication Date: 2022-06-28

Variant appearance in text: VWF: Arg1379Cys

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Pagliari, Maria Teresa MT; Baronciani, Luciano L; Cordiglieri, Chiara C; Colpani, Paola P; Cozzi, Giovanna G; Siboni, Simona M SM; Peyvandi, Flora F

Publication Date: 2022-03

Variant appearance in text: VWF: Arg1379Cys

PubMed Link: 35064738

Variant Present in the following documents:

• HAE-28-292.pdf

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Cryptogenic oozers and bruisers.

Hematology. American Society Of Hematology. Education Program

Smock, Kristi J KJ; Moser, Karen A KA

Publication Date: 2021-12-10

Variant appearance in text: VWF: R1379C

PubMed Link: 34889362

Variant Present in the following documents:

• Main text

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Congenital Combined Bleeding Disorders, a Comprehensive Study of a Large Number of Iranian Patients.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Ahmadi, Seyed Esmaeil SE; Jazebi, Mohammad M; Bahoush, Gholamreza G; Baghaipour, Mohammad Reza MR; Ala, Fereydoun F; Tabibian, Shadi S

Publication Date: 2021

Variant appearance in text: VWF: 4135C>T; Arg1379Cys

PubMed Link: 33764796

Variant Present in the following documents:

• Main text
• 10.1177_1076029621996813.pdf

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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: R1379C

PubMed Link: 33550910

Variant Present in the following documents:

• Main text
• 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: R1379C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: VWF: 4135C>T; rs61750074

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: 4135C>T; R1379C; rs61750074

PubMed Link: 31249928

Variant Present in the following documents:

• Main text
• 10-1055-s-0037-1618571.pdf

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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: Arg1379Cys

PubMed Link: 30046717

Variant Present in the following documents:

• Main text
• RTH2-2-162.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: 4135C>T; rs61750074

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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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: R1379C

PubMed Link: 28640903

Variant Present in the following documents:

• Main text
• pone.0179566.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: R1379C

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: 4135C>T; R1379C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: VWF: R1379C

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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p.P2063S: a neutral VWF variant masquerading as a mutation.

Annals Of Hematology

Hampshire, Daniel J DJ; Goodeve, Anne C AC

Publication Date: 2014-03

Variant appearance in text: VWF: 4135C>T; R1379C

PubMed Link: 23775583

Variant Present in the following documents:

• Main text

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Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Blood

Starke, Richard D RD; Paschalaki, Koralia E KE; Dyer, Clare E F CE; Harrison-Lavoie, Kimberly J KJ; Cutler, Jacqueline A JA; McKinnon, Thomas A J TA; Millar, Carolyn M CM; Cutler, Daniel F DF; Laffan, Mike A MA; Randi, Anna M AM

Publication Date: 2013-04-04

Variant appearance in text: VWF: R1379C

PubMed Link: 23355534

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: R1379C

PubMed Link: 20305138

Variant Present in the following documents:

• Main text

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