Associated Papers
Natural history of epilepsy in FOXG1 Syndrome.
Rhodes C et al.
Epilepsy Research, 2025
Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.
Lin TY et al.
Molecular Psychiatry, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Sorrentino U et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.
Wong LC et al.
International Journal of Molecular Sciences, 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
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Ellaway CJ et al.
European Journal of Human Genetics : Ejhg, 2013
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.
Takahashi S et al.
Clinical Genetics, 2012
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
A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.
Niu Y et al.
Annals of Saudi Medicine, 0