ArticleKorean journal of radiology2022
Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.
Article in Korean journal of radiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.Genome medicine · 2026Article
- Review
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Dysregulated Genes and Signaling Pathways in the Formation and Rupture of Intracranial Aneurysm.Translational stroke research · 2024Article
- Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.International journal of molecular sciences · 2024Article
- Flow Diverter Treatment Using a Flow Re-Direction Endoluminal Device for Unruptured Intracranial Vertebral Artery Dissecting Aneurysm: Single-Center Case Series and Technical Considerations.Neurointervention · 2023Article
- Physiologic Flow Diversion Coiling Technique for Wide-Necked Aneurysms with an Asymmetric Bidirectional Flow at the Aneurysm Neck.Neurointervention · 2022Article
- Identifying and validating key genes mediating intracranial aneurysm rupture using weighted correlation network analysis and exploration of personalized treatment.Annals of translational medicine · 2022Article
- Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing.Korean journal of radiology · 2022Article
- Response to "Familial Intracranial Aneurysm Requires Not Only Whole-Exome Sequencing, But Also Mitochondrial DNA Sequencing".Korean journal of radiology · 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
objectiveFamilial intracranial aneurysms (FIAs) are found in approximately 6%-20% of patients with intracranial aneurysms (IAs), suggesting that genetic predisposition likely plays a role in its pathogenesis. The aim of this study was to identify possible IA-associated variants using whole exome sequencing (WES) in selected Korean families with FIA. MATERIALS AND
methodsAmong the 26 families in our institutional database with two or more IA-affected first-degree relatives, three families that were genetically enriched (multiple, early onset, or common site involvement within the families) for IA were selected for WES. Filtering strategies, including a family-based approach and knowledge-based prioritization, were applied to derive possible IA-associated variants from the families. A chromosomal microarray was performed to detect relatively large chromosomal abnormalities.
resultsThirteen individuals from the three families were sequenced, of whom seven had IAs. We noted three rare, potentially deleterious variants (
conclusionUsing WES, we found that rare, potentially deleterious variants in
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