Associated Papers
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.
Muhammad A et al.
Clinical Genetics, 2026
Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis.
Molaee Z et al.
Genes, 2025
Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicotine consumption as risk factors.
Leitinger M et al.
Epilepsia Open, 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
Exploring the genetic frontier: Unraveling ANRIL, PAI-1, and HNF1α in stroke progression.
Hamadi A et al.
Plos One, 2025
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.
Andres EM et al.
Children (basel, Switzerland), 2023
Rare Missense Functional Variants at COL4A1 and COL4A2 in Sporadic Intracerebral Hemorrhage.
Chung J et al.
Neurology, 2021
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Ilinca A et al.
Stroke, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.
Wierbowski SD et al.
Current Opinion in Systems Biology, 2018
New insights into mechanisms of small vessel disease stroke from genetics.
Tan R et al.
Clinical Science (london, England : 1979), 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Ha TT et al.
American Journal of Medical Genetics. Part A, 2016
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen ME et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study.
Adams JN et al.
Cardiovascular Diabetology, 2014
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
Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.
Yuan JH et al.
Pain Reports, 0
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0