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: 3383G>A; Arg1128His; rs12713843
Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.
International Journal Of Molecular Sciences
Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Publication Date: 2022-11
Variant appearance in text: APOB: R1128H; rs12713843
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Frontiers In Immunology
Suratannon, Narissara N; van Wijck, Rogier T A RTA; Broer, Linda L; Xue, Laixi L; van Meurs, Joyce B J JBJ; Barendregt, Barbara H BH; van der Burg, Mirjam M; Dik, Willem A WA; Chatchatee, Pantipa P; Langerak, Anton W AW; Swagemakers, Sigrid M A SMA; Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ; Dalm, Virgil A S H VASH; Suphapeetiporn, Kanya K; Heezen, Kim C KC; Drabwell, Jose J; Uitterlinden, André G AG; van der Spek, Peter J PJ; van Hagen, P Martin PM; ,
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: APOB: 3383G>A; Arg1128His
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: APOB: 3383G>A; Arg1128His
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: APOB: 3383G>A; Arg1128His; rs12713843
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: APOB: R1128H; rs12713843
Testing for an unusual distribution of rare variants.
Plos Genetics
Neale, Benjamin M BM; Rivas, Manuel A MA; Voight, Benjamin F BF; Altshuler, David D; Devlin, Bernie B; Orho-Melander, Marju M; Kathiresan, Sekar S; Purcell, Shaun M SM; Roeder, Kathryn K; Daly, Mark J MJ