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: APOB: 9937C>A; Leu3313Ile; rs146687604
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: APOB: L3313I; rs146687604
Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.
Global Heart
Alnouri, Fahad F; Al-Allaf, Faisal A FA; Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Alabdullah, Moheeb M; Alammari, Dalal D; Alanazi, Menwar M; Alkaf, Fahmi F; Allehyani, Abeer A; Alotaiby, Mohammad A MA; Alshehri, Abdullah A; Bouazzaoui, Abdellatif A; Karrar, Hussam H; Taher, Mohiuddin M MM
Publication Date: 2020-02-28
Variant appearance in text: APOB: 9937C>A; L3313I; rs146687604