Associated Papers
Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain.
Hirn E et al.
Pediatric Neurology, 2025
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.
Guo YX et al.
International Journal of General Medicine, 2021
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
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C et al.
Scientific Reports, 2019
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