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
Adult-onset drug-resistant progressive epilepsy in a patient with novel MECP2 mutation.
Ho S et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain.
Hirn E et al.
Pediatric Neurology, 2025
VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants.
Yin R et al.
Plos Computational Biology, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Yield of Genetic Testing in Children with Autism Spectrum Disorder - A Single-Center Experience.
Arora K et al.
Annals of Indian Academy of Neurology, 2025
A novel approach to metabolic profiling in case models of MECP2-related disorders.
Cooley Coleman JA et al.
Metabolic Brain Disease, 2025
Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.
Li C et al.
Scientific Reports, 2024
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S et al.
European Journal of Human Genetics : Ejhg, 2024
Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.
Karaosmanoglu B et al.
Molecular Biology Reports, 2024
Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.
Berger TD et al.
European Journal of Pediatrics, 2024
VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.
Yin R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Parental age effects and Rett syndrome.
Fang X et al.
American Journal of Medical Genetics. Part A, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F et al.
Bmc Neurology, 2023
Rett Syndrome: A Tale of Altered Genetics, Synaptic Plasticity, and Neurodevelopmental Dynamics.
Oluigbo DC
Cureus, 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
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
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X et al.
Molecular Genetics & Genomic Medicine, 2022
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
Shah J et al.
Bmc Neurology, 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
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Croci S et al.
European Journal of Human Genetics : Ejhg, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Amadori E et al.
Italian Journal of Pediatrics, 2020
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
Gu Y et al.
Bmc Medical Genetics, 2020
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
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
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.
Nasiri J et al.
Iranian Journal of Child Neurology, 2019
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.
Townend GS et al.
Human Mutation, 2018
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
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
Chapleau CA et al.
American Journal of Medical Genetics. Part A, 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
A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing.
Long SW et al.
Bioscience Reports, 2011