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: 7085G>T; Cys2362Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.

Acta Dermato-Venereologica

Yu, Jiangfan J; Tang, Bingsi B; He, Xinglan X; Zou, Puyu P; Zeng, Zhuotong Z; Xiao, Rong R

Publication Date: 2022-02-28

Variant appearance in text: VWF: C2362F

PubMed Link: 35083492

Variant Present in the following documents:

• ActaDV-102-353.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: 7085G>T; Cys2362Phe; rs61750630

PubMed Link: 34351388

Variant Present in the following documents:

• Main text

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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: C2362F

PubMed Link: 33623884

Variant Present in the following documents:

• hs9-5-e542.pdf

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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: C2362F

PubMed Link: 32573891

Variant Present in the following documents:

• Main text

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Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.

Haematologica

Daidone, Viviana V; Galletta, Eva E; De Marco, Luigi L; Casonato, Alessandra A

Publication Date: 2020-04

Variant appearance in text: VWF: C2362F

PubMed Link: 31320553

Variant Present in the following documents:

• 1051120.pdf

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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: C2362F

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: 7085G>T; C2362F

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.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: C2362F

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: C2362F

PubMed Link: 24385719

Variant Present in the following documents:

• Main text
• TJH-29-313.pdf

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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: 7085G>T; C2362F

PubMed Link: 23777763

Variant Present in the following documents:

• Main text

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Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.

Haematologica

Castaman, Giancarlo G; Tosetto, Alberto A; Rodeghiero, Francesco F

Publication Date: 2010-06

Variant appearance in text: VWF: C2362F

PubMed Link: 19951969

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: C2362F

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

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