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: 4105T>A; Phe1369Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs61750069

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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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: 4105T>A; Phe1369Ile

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: F1369I

PubMed Link: 35452508

Variant Present in the following documents:

• advancesADV2022007216-suppl1.pdf
• 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: 4105T>A; Phe1369Ile

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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Fibronectin binding to von Willebrand factor occurs via the A1 domain.

Research And Practice In Thrombosis And Haemostasis

Keesler, Daniel A DA; Slobodianuk, Tricia L TL; Kochelek, Caroline E CE; Skaer, Chad W CW; Haberichter, Sandra L SL; Flood, Veronica H VH

Publication Date: 2021-06

Variant appearance in text: VWF: F1369I

PubMed Link: 34136746

Variant Present in the following documents:

• Main text
• RTH2-5-e12534.pdf

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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: Phe1369Ile

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

View BVdb publication page

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von Willebrand factor binding to myosin assists in coagulation.

Blood Advances

Flood, Veronica H VH; Slobodianuk, Tricia L TL; Keesler, Daniel D; Lohmeier, Hannah K HK; Fahs, Scot S; Zhang, Liyun L; Simpson, Pippa P; Montgomery, Robert R RR

Publication Date: 2020-01-14

Variant appearance in text: VWF: F1369I

PubMed Link: 31935285

Variant Present in the following documents:

• Main text

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Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.

Journal Of Molecular Biology

Tischer, Alexander A; Brehm, Maria A MA; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Nelton, Katelynn J KJ; Leger, Rachel R RR; Obser, Tobias T; Martinez-Vargas, Marina M; Whitten, Steven T ST; Chen, Dong D; Pruthi, Rajiv K RK; Bergen, H Robert HR; Cruz, Miguel A MA; Schneppenheim, Reinhard R; Auton, Matthew M

Publication Date: 2020-01-17

Variant appearance in text: VWF: F1369I

PubMed Link: 31628947

Variant Present in the following documents:

• Main text

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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: F1369I

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.

Journal Of Molecular Biology

Machha, Venkata R VR; Tischer, Alexander A; Moon-Tasson, Laurie L; Auton, Matthew M

Publication Date: 2017-01-06

Variant appearance in text: VWF: F1369I

PubMed Link: 27889474

Variant Present in the following documents:

• Main text

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Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.

Biophysical Journal

Zimmermann, Michael T MT; Tischer, Alexander A; Whitten, Steven T ST; Auton, Matthew M

Publication Date: 2015-07-21

Variant appearance in text: VWF: F1369I

PubMed Link: 26200876

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: F1369I

PubMed Link: 23355534

Variant Present in the following documents:

• Main text

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The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth

Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,

Publication Date: 2013-03

Variant appearance in text: VWF: 4105T>A; Phe1369Ile

PubMed Link: 23311757

Variant Present in the following documents:

• Main text

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Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Journal Of Thrombosis And Haemostasis : Jth

Flood, V H VH; Lederman, C A CA; Wren, J S JS; Christopherson, P A PA; Friedman, K D KD; Hoffmann, R G RG; Montgomery, R R RR

Publication Date: 2010-06

Variant appearance in text: VWF: F1369I

PubMed Link: 20345715

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: F1369I

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

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