Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
Natural history of epilepsy in FOXG1 Syndrome.
Rhodes C et al.
Epilepsy Research, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
The lincRNA Pantr1 is a FOXG1 target gene conferring site-specific chromatin binding of FOXG1.
Gather F et al.
Nucleic Acids Research, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.
Lysenkova Wiklander M et al.
Life Science Alliance, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 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
Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
Brea-Fernández AJ et al.
Cytogenetic and Genome Research, 2023
Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.
Akol I et al.
International Journal of Molecular Sciences, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 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
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
FOXG1 variant presenting as unexplained irritability and peculiar crying spells.
Sharma A et al.
Seizure, 2021
Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.
Jang HN et al.
Medicine, 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
The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene.
Waite AJ et al.
Stem Cell Research, 2020
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Cutri-French C et al.
Annals of Neurology, 2020
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
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Ma M et al.
The Journal of Pediatrics, 2016
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
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
McMahon KQ et al.
American Journal of Medical Genetics. Part A, 2015
[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
He XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
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
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.
Van der Aa N et al.
Molecular Syndromology, 2011
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Kortüm F et al.
Journal of Medical Genetics, 2011
A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.
Niu Y et al.
Annals of Saudi Medicine, 0