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
The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome.
Jeon S et al.
Nature Communications, 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
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells.
Hettige NC et al.
Human Molecular Genetics, 2023
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
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.
Bjerregaard VA et al.
Genes, 2023
FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.
Hettige NC et al.
Stem Cell Reports, 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
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Colin E et al.
Frontiers in Cell and Developmental Biology, 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
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N et al.
Journal of Medical Genetics, 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