Publications:

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: 6433C>T; Pro2145Ser; rs61750618

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

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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: VWF: Pro2145Ser; rs61750618

PubMed Link: 34272389

Variant Present in the following documents:

• 41525_2021_228_MOESM1_ESM.pdf

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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: 6433C>T; Pro2145Ser

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Genome Medicine

Westbury, Sarah K SK; Turro, Ernest E; Greene, Daniel D; Lentaigne, Claire C; Kelly, Anne M AM; Bariana, Tadbir K TK; Simeoni, Ilenia I; Pillois, Xavier X; Attwood, Antony A; Austin, Steve S; Jansen, Sjoert Bg SB; Bakchoul, Tamam T; Crisp-Hihn, Abi A; Erber, Wendy N WN; Favier, Rémi R; Foad, Nicola N; Gattens, Michael M; Jolley, Jennifer D JD; Liesner, Ri R; Meacham, Stuart S; Millar, Carolyn M CM; Nurden, Alan T AT; Peerlinck, Kathelijne K; Perry, David J DJ; Poudel, Pawan P; Schulman, Sol S; Schulze, Harald H; Stephens, Jonathan C JC; Furie, Bruce B; Robinson, Peter N PN; van Geet, Chris C; Rendon, Augusto A; Gomez, Keith K; Laffan, Michael A MA; Lambert, Michele P MP; Nurden, Paquita P; Ouwehand, Willem H WH; Richardson, Sylvia S; Mumford, Andrew D AD; Freson, Kathleen K; ,

Publication Date: 2015

Variant appearance in text: VWF: P2145S

PubMed Link: 25949529

Variant Present in the following documents:

• 13073_2015_151_MOESM11_ESM.pdf

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