Associated Papers
Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.
Paradisi G et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2026
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.
Neuhann L et al.
International Journal of Molecular Sciences, 2025
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.
Yang Z et al.
Npj Genomic Medicine, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Mutations in the type IV collagen gen (COL4A1) as an unusual etiology of cerebrovascular disease in young adults.
Martín Prieto J et al.
Neurologia, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Lecca M et al.
Clinical Genetics, 2024
The importance of routine genetic testing in pediatric epilepsy surgery.
Becker LL et al.
Epilepsia Open, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Fehlings DL et al.
Nature Genetics, 2024
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
COL4A1 gene mutations and perinatal intracranial hemorrhage in neonates: case reports and literature review.
Bersani I et al.
Frontiers in Pediatrics, 2024
A pragmatic approach to selective genetic testing in kidney transplant candidates.
Nissaisorakarn P et al.
Frontiers in Transplantation, 2023
Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.
Whittaker E et al.
Journal of the American Heart Association, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Genome sequencing in congenital cataracts improves diagnostic yield.
Ma A et al.
Human Mutation, 2021
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage.
Hausman-Kedem M et al.
Annals of Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.
Rannikmäe K et al.
Stroke, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.
Scoppettuolo P et al.
Frontiers in Neurology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
Labelle-Dumais C et al.
American Journal of Human Genetics, 2019
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Stavropoulos DJ et al.
Npj Genomic Medicine, 2016
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM et al.
Clinical Genetics, 2015
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
Deml B et al.
Clinical Genetics, 2014
Fetal intracerebral hemorrhage and cataract: think COL4A1.
Colin E et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Kuo DS et al.
Human Molecular Genetics, 2012
Childhood presentation of COL4A1 mutations.
Shah S et al.
Developmental Medicine and Child Neurology, 2012