Associated Papers
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
Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain.
Hirn E et al.
Pediatric Neurology, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 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
Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.
Gomathi M et al.
Molecular Neurobiology, 2024
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
Pang N et al.
Gene, 2024
Parental age effects and Rett syndrome.
Fang X et al.
American Journal of Medical Genetics. Part A, 2024
Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome.
Bijlani S et al.
Frontiers in Genome Editing, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
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
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Cooley Coleman JA et al.
American Journal of Medical Genetics. Part A, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C et al.
Diagnostics (basel, Switzerland), 2021
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.
Ehrhart F et al.
Scientific Data, 2021
MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.
Good KV et al.
Frontiers in Genetics, 2021
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Croci S et al.
European Journal of Human Genetics : Ejhg, 2020
Electroencephalography as a Diagnostic Aid in a Girl with Neuroregression and Stereotypies.
Dhar D et al.
Journal of Neurosciences in Rural Practice, 2020
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C et al.
Scientific Reports, 2019
Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.
Bernstein U et al.
Molecular Syndromology, 2019
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
Yan H et al.
Bmc Medical Genetics, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.
Nasiri J et al.
Iranian Journal of Child Neurology, 2019
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro.
Sheikh TI et al.
Human Mutation, 2018
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
Li J et al.
Molecular Psychiatry, 2017
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
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H et al.
Epilepsia, 2013
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.
Das DK et al.
Gene, 2013
Molecular diagnostic dilemmas in Rett syndrome.
Zvereff V et al.
Brain & Development, 2012
Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome.
Squillaro T et al.
Molecular Biology of the Cell, 2012
Patients with Rett syndrome sustain low-energy fractures.
Roende G et al.
Pediatric Research, 2011
Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.
Nectoux J et al.
Journal of Cellular and Molecular Medicine, 2010
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
Zahorakova D et al.
Journal of Human Genetics, 2007
MECP2 abnormality phenotypes: clinicopathologic area with broad variability.
Erlandson A et al.
Journal of Child Neurology, 2005