Associated Papers
Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.
Kayhan G et al.
Genes, 2026
miR126-mediated alteration of vascular integrity in Rett syndrome.
Osaki T et al.
Molecular Psychiatry, 2026
Disease-modifying therapies for Rett syndrome: a review for neurologists.
Samanta D
Frontiers in Neurology, 2026
Methyl-CpG-binding protein 2 reads histone methylation via an aromatic cage to regulate gene expression and chromatin association.
Padhan J et al.
The Journal of Biological Chemistry, 2025
MeCP2 regulates telencephalic development in human cerebral organoids.
Tenreiro MF et al.
Cell Reports, 2025
Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain.
Hirn E et al.
Pediatric Neurology, 2025
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach.
Guy J et al.
Biorxiv : the Preprint Server for Biology, 2025
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study.
Ferreira MC et al.
European Journal of Pediatrics, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
[Analysis of MECP2 gene variants and X chromosome inactivation in four children with Rett syndrome].
Wei C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 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
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Rett Syndrome: The Emerging Landscape of Treatment Strategies.
Percy AK et al.
Cns Drugs, 2024
miR126-mediated impaired vascular integrity in Rett syndrome.
Osaki T et al.
Biorxiv : the Preprint Server for Biology, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoids.
Osaki T et al.
Biorxiv : the Preprint Server for Biology, 2024
Multi-omics in MECP2 duplication syndrome patients and carriers.
Pascual-Alonso A et al.
The European Journal of Neuroscience, 2024
Co-Occurring Methylenetetrahydrofolate Reductase (MTHFR) rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome.
Singh J et al.
Brain Sciences, 2024
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
Luiza Benevides M et al.
Epilepsy & Behavior : E&b, 2024
[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
Li Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
Çapan ÖY et al.
Seizure, 2024
Domain-inlaid Nme2Cas9 adenine base editors with improved activity and targeting scope.
Bamidele N et al.
Nature Communications, 2024
Parental age effects and Rett syndrome.
Fang X et al.
American Journal of Medical Genetics. Part A, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
Musokhranova U et al.
Journal of Translational Medicine, 2023
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Pascual-Alonso A et al.
Human Genomics, 2023
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.
Wen Y et al.
Bmc Medicine, 2023
Engineering Nme2Cas9 Adenine Base Editors with Improved Activity and Targeting Scope.
Bamidele N et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.
Kim JA et al.
Journal of Human Genetics, 2022
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.
Hu C et al.
Genes, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.
Peron A et al.
Journal of Medical Genetics, 2022
Genetic analysis of neurodevelopmental disorders in children.
Wu D et al.
Frontiers in Child and Adolescent Psychiatry, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome.
Haase F et al.
International Journal of Molecular Sciences, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives.
Gomes AR et al.
International Journal of Molecular Sciences, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021