Associated Papers
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.
Spedicati B et al.
Genes, 2025
Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.
Lin TY et al.
Molecular Psychiatry, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Jurgens JA et al.
Investigative Ophthalmology & Visual Science, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
Jurgens JA et al.
Biorxiv : the Preprint Server for Biology, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.
Pepe G et al.
Genes, 2024
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Santana Almansa A et al.
Annals of Clinical and Translational Neurology, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Brimble E et al.
Orphanet Journal of Rare Diseases, 2023
The patient-specific mouse model with Foxg1 frameshift mutation uncovers the pathophysiology of FOXG1 syndrome.
Park J et al.
Research Square, 2023
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
Peron A et al.
Journal of Medical Genetics, 2022
Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.
Jang HN et al.
Medicine, 2021
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.
Wong LC et al.
International Journal of Molecular Sciences, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim M et al.
Annals of Clinical and Translational Neurology, 2019
Cognition and Evolution of Movement Disorders of FOXG1-Related Syndrome.
Wong LC et al.
Frontiers in Neurology, 2019
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Vegas N et al.
Neurology. Genetics, 2018
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
Cellini E et al.
Developmental Medicine and Child Neurology, 2016
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.
Allou L et al.
European Journal of Human Genetics : Ejhg, 2012