Associated Papers
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 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
Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.
Luo C et al.
Molecular Genetics & Genomic Medicine, 2024
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Uemura M et al.
Neurology International, 2024
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA et al.
European Journal of Medical Genetics, 2022
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
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T et al.
Journal of Medical Genetics, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 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
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
van Eyk CL et al.
Npj Genomic Medicine, 2019
Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation.
Hatano T et al.
Parkinsonism & Related Disorders, 2017
The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.
Pagan M et al.
Bmc Bioinformatics, 2016
Brain and Placental Pathology in Fetal COL4A1 Related Disease.
Shannon P et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0