Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.
Jeon S et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.
Akol I et al.
International Journal of Molecular Sciences, 2022
Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies.
Lu G et al.
Frontiers in Molecular Neuroscience, 2022
Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.
Jang HN et al.
Medicine, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
Zhang Q et al.
Bmc Medical Genetics, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A et al.
Neurology, 2016
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
Cellini E et al.
Developmental Medicine and Child Neurology, 2016
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.
Fryssira H et al.
Molecular Cytogenetics, 2016
A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.
Niu Y et al.
Annals of Saudi Medicine, 0