Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.
Bach S et al.
Scientific Reports, 2020
33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.
Ganakammal SR et al.
Peerj, 2019
31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_
Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.
Wang X et al.
Frontiers in Pharmacology, 2018
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Harmancı AS et al.
Nature Communications, 2017
28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.
Wen Z et al.
Molecular Autism, 2017
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
Sprovieri T et al.
American Journal of Medical Genetics. Part A, 2009
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
Miltenberger-Miltenyi G et al.
Human Mutation, 2003
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
Conforti FL et al.
American Journal of Medical Genetics. Part A, 2003
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