SynthesisEuropean journal of human genetics : EJHG2019
A stroke gene panel for whole-exome sequencing.
Synthesis in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.Stroke · 2020Trial
- Treatment of a severe vascular disease using a bespoke CRISPR-Cas9 base editor in mice.Nature biomedical engineering · 2026Article
- Genetic background of neurological disorders with basal ganglia calcification.Journal of neurology · 2025Article
- Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.Stroke and vascular neurology · 2024Article
- The Roles of NOTCH3 p.R544C and Thrombophilia Genes in Vietnamese Patients With Ischemic Stroke: Study Involving a Hierarchical Cluster Analysis.JMIR bioinformatics and biotechnology · 2024Article
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.Cellular and molecular neurobiology · 2023Article
- Polymorphism ofIBRO neuroscience reports · 2023Article
- 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 · 2023Article
- Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants.Journal of neurology · 2023Article
- Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke.European journal of human genetics : EJHG · 2023Article
- Transcriptomic analysis reveals the potential biological mechanism of AIS and lung adenocarcinoma.Frontiers in neurology · 2023Article
- Genetic analysis reveals novel variants for vascular cognitive impairment.Acta neurologica Scandinavica · 2022Article
- Stroke and Etiopathogenesis: What Is Known?Genes · 2022Review
- Monogenic basis of young-onset cryptogenic stroke: a multicenter study.Annals of translational medicine · 2022Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against original peer-reviewed publications in PubMed. First, we selected known pathogenic or putatively pathogenic stroke genes reported in at least one person with stroke, and classified the stroke phenotype for each gene into eight subgroups: (1) large artery atherosclerotic, (2) large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection, occlusion), (3) cerebral small-vessel diseases, (4) cardioembolic (arrhythmia, heart defect, cardiomyopathy), (5) coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), (6) intracerebral hemorrhage, (7) vascular malformations (cavernoma, arteriovenous malformations), and (8) metabolism disorders. Second, we selected other genes that may plausibly cause stroke through diseases related to stroke, but without any documented stroke patient description. A third section comprised SNPs associated with stroke in genome-wide association studies (GWAS). We identified in total 214 genes: 120 associated with stroke, 62 associated with diseases that may cause stroke, and 32 stroke-related genes from recent GWAS. We describe these 214 genes and the clinical stroke subtype(s) associated with each of them. The resulting gene panel can be used to interpret exome sequencing results regarding monogenic stroke. Based on the panel's clinical phenotype description, the pathogenicity of novel variants in these genes may be evaluated in specific situations.
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