ArticlePloS one2015
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 140 citations in OpenAlex.
- Intracranial Aneurysm-Associated COL22A1 Variants Impair Cerebrovascular Structure and Barrier Integrity in Zebrafish.International journal of molecular sciences · 2026Article
- Biology, Physics, and Genetics of Intracranial Aneurysm Formation: A Review.Journal of neurological surgery. Part A, Central European neurosurgery · 2026Review
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- TMEM132A ensures mouse caudal neural tube closure and regulates integrin-based mesodermal migration.Development (Cambridge, England) · 2022Article
- Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.Gastroenterology report · 2021Article
- Decreased Trabecular Bone Mass inCells · 2021Article
- Article
- Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.Journal of neurology · 2020Article
- Exome sequencing reveals a novel variant inJournal of neurointerventional surgery · 2020Article
- Intracranial Aneurysms: Pathology, Genetics, and Molecular Mechanisms.Neuromolecular medicine · 2019Review
- Collagen COL22A1 maintains vascular stability and mutations inDisease models & mechanisms · 2018Article
- Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.American journal of human genetics · 2018Article
- Rho Guanine Nucleotide Exchange FactorCirculation. Genomic and precision medicine · 2018Article
- A genome scan for quantitative trait loci affecting average daily gain and Kleiber ratio in Baluchi Sheep.Journal of genetics · 2018Article
- TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules.Bioinformatics (Oxford, England) · 2018Article
- Family studies to find rare high risk variants in migraine.The journal of headache and pain · 2017Review
- A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.Journal of genetic counseling · 2017Review
- RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.American journal of human genetics · 2016Article
- AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.Human molecular genetics · 2015Article
Corrections and comments
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Authors and funding
21 authors at 6 institutions in 3 countries.
Funding
Abstract
Genetic risk factors for intracranial aneurysm (IA) are not yet fully understood. Genomewide association studies have been successful at identifying common variants; however, the role of rare variation in IA susceptibility has not been fully explored. In this study, we report the use of whole exome sequencing (WES) in seven densely-affected families (45 individuals) recruited as part of the Familial Intracranial Aneurysm study. WES variants were prioritized by functional prediction, frequency, predicted pathogenicity, and segregation within families. Using these criteria, 68 variants in 68 genes were prioritized across the seven families. Of the genes that were expressed in IA tissue, one gene (TMEM132B) was differentially expressed in aneurysmal samples (n=44) as compared to control samples (n=16) (false discovery rate adjusted p-value=0.023). We demonstrate that sequencing of densely affected families permits exploration of the role of rare variants in a relatively common disease such as IA, although there are important study design considerations for applying sequencing to complex disorders. In this study, we explore methods of WES variant prioritization, including the incorporation of unaffected individuals, multipoint linkage analysis, biological pathway information, and transcriptome profiling. Further studies are needed to validate and characterize the set of variants and genes identified in this study.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.