Associated Papers
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
Muhammad A et al.
Clinical Genetics, 2026
Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort.
Dunn PJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Genetics of intracerebral hemorrhage.
Kimball TN et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
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.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants.
Ferguson AC et al.
Neurology. Genetics, 2022
Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.
Shi M et al.
Stroke and Vascular Neurology, 2022
Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy.
Bakhtiari S et al.
Neurology. Genetics, 2021
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Ha TT et al.
American Journal of Medical Genetics. Part A, 2016
Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.
Rannikmäe K et al.
Neurology, 2015
Current concepts and clinical applications of stroke genetics.
Falcone GJ et al.
The Lancet. Neurology, 2014
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
Gunda B et al.
Journal of Neurology, 2014
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M et al.
American Journal of Human Genetics, 2012