Associated Papers
Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder.
Bajaj S et al.
Journal of Human Genetics, 2025
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Pascual-Alonso A et al.
Human Genomics, 2023
37710353 (PubMed )
Supplement: 40246_2023_532_MOESM4_ESM.xlsx › patient_cohort
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.
Wong LC et al.
International Journal of Molecular Sciences, 2019
31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim M et al.
Annals of Clinical and Translational Neurology, 2019
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
De Filippis R et al.
Clinical Genetics, 2012
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.
Florian C et al.
Molecular Syndromology, 2012
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.
Van der Aa N et al.
Molecular Syndromology, 2011
[FOXG1, a new gene responsible for the congenital form of Rett syndrome].
Roche-Martinez A et al.
Revista De Neurologia, 2011
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T et al.
Neurogenetics, 2011
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli MA et al.
Journal of Medical Genetics, 2010
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