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
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
Orphanet Journal Of Rare Diseases
Campens, Laurence L; Callewaert, Bert B; MuiƱo Mosquera, Laura L; Renard, Marjolijn M; Symoens, Sofie S; De Paepe, Anne A; Coucke, Paul P; De Backer, Julie J
Publication Date: 2015-02-03
Variant appearance in text: FBN1: 860A>G; Glu287Gly