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: 3379+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: rs2363337

PubMed Link: 34351388

Variant Present in the following documents:

• Main text

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Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine

Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N

Publication Date: 2021-07-16

Variant appearance in text: rs2363337

PubMed Link: 34272389

Variant Present in the following documents:

• 41525_2021_228_MOESM1_ESM.pdf

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Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)

Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z

Publication Date: 2021-03-05

Variant appearance in text: VWF: 3379+1G>A

PubMed Link: 33807613

Variant Present in the following documents:

• Main text
• life-11-00202.pdf
• life-11-00202-s001.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: VWF: 3379+1G>A; rs2363337

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: 3379+1G>A

PubMed Link: 30361419

Variant Present in the following documents:

• Main text
• 2018.203166.BORRAS_SUPPL.pdf
• 1040587.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: 3379+1G>A; rs2363337

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: 3379+1G>A

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One

Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: VWF: 3379+1G>A

PubMed Link: 24675615

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: 3379+1G>A

PubMed Link: 23311757

Variant Present in the following documents:

• Main text

View BVdb publication page

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