Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: VWF: 1892C>T; Ala631Val; rs199963222

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: VWF: 1892C>T; A631V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Research And Practice In Thrombosis And Haemostasis

Dubois, Marie-Daniéla MD; Peyron, Ivan I; Pierre-Louis, Olivier-Nicolas ON; Pierre-Louis, Serge S; Rabout, Johalène J; Boisseau, Pierre P; de Jong, Annika A; Susen, Sophie S; Goudemand, Jenny J; Neviere, Rémi R; Fuseau, Pascal P; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Casari, Caterina C

Publication Date: 2022-05

Variant appearance in text: VWF: 1892C>T; Ala631Val

PubMed Link: 35734101

Variant Present in the following documents:

• Main text
• RTH2-6-e12737.pdf

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: VWF: 1892C>T; Ala631Val; rs199963222

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

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A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

Th Open : Companion Journal To Thrombosis And Haemostasis

Dubois, Marie Daniela MD; Pierre-Louis, Serge S; Rabout, Johalène J; Denis, Cécile V CV; Christophe, Olivier O; Susen, Sophie S; Goudemand, Jenny J; Boisseau, Pierre P; Neviere, Rémi R; Pierre-Louis, Olivier O

Publication Date: 2020-10

Variant appearance in text: VWF: Ala631Val

PubMed Link: 33134807

Variant Present in the following documents:

• Main text
• 10-1055-s-0040-1718703.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: Ala631Val

PubMed Link: 30361419

Variant Present in the following documents:

• Main text
• 1040587.pdf

View BVdb publication page

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Group association test using a hidden Markov model.

Biostatistics (Oxford, England)

Cheng, Yichen Y; Dai, James Y JY; Kooperberg, Charles C

Publication Date: 2016-04

Variant appearance in text: VWF: Ala631Val

PubMed Link: 26420797

Variant Present in the following documents:

• Main text

View BVdb publication page

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VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood

Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR

Publication Date: 2012-03-01

Variant appearance in text: VWF: A631V

PubMed Link: 22197721

Variant Present in the following documents:

• Main text

View BVdb publication page

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