Publications:

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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: 7437G>A; Ser2479=

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

View BVdb publication page

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vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed.

Canine Genetics And Epidemiology

Segert, Julia H JH; Seidel, Jana-Marie JM; Wurzer, Walter J WJ; Geretschlaeger, Anja M AM

Publication Date: 2019

Variant appearance in text: VWF: 7437G>A

PubMed Link: 31131110

Variant Present in the following documents:

• Main text
• 40575_2019_Article_73.pdf

View BVdb publication page

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Heterozygosity testing and multiplex DNA panel screening as a potential tool to monitor health and inbreeding in a small, closed dog population.

Canine Genetics And Epidemiology

Keijser, S F A SFA; Fieten, H H; Vos-Loohuis, M M; Piek, C J CJ; Anderson, H H; Donner, J J; Scholten, I I; Nielen, M M; Hesselink, J W JW; van Steenbeek, F G FG

Publication Date: 2018

Variant appearance in text: VWF: 7437G>A; Ser2479Ser

PubMed Link: 30607250

Variant Present in the following documents:

• Main text
• 40575_2018_Article_68.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: 7437G>A

PubMed Link: 30361419

Variant Present in the following documents:

• Main text
• 2018.203166.BORRAS_SUPPL.pdf
• 1040587.pdf

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Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.

Plos Genetics

Donner, Jonas J; Anderson, Heidi H; Davison, Stephen S; Hughes, Angela M AM; Bouirmane, Julia J; Lindqvist, Johan J; Lytle, Katherine M KM; Ganesan, Balasubramanian B; Ottka, Claudia C; Ruotanen, Päivi P; Kaukonen, Maria M; Forman, Oliver P OP; Fretwell, Neale N; Cole, Cynthia A CA; Lohi, Hannes H

Publication Date: 2018-04

Variant appearance in text: VWF: 7437G>A

PubMed Link: 29708978

Variant Present in the following documents:

• Main text
• pgen.1007361.pdf

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Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.

Plos One

Donner, Jonas J; Kaukonen, Maria M; Anderson, Heidi H; Möller, Fredrik F; Kyöstilä, Kaisa K; Sankari, Satu S; Hytönen, Marjo M; Giger, Urs U; Lohi, Hannes H

Publication Date: 2016

Variant appearance in text: VWF: 7437G>A; Ser2479Ser

PubMed Link: 27525650

Variant Present in the following documents:

• Main text
• pone.0161005.pdf

View BVdb publication page

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