Associated Papers
Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.
Li X et al.
Seizure, 2026
Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.
Wei C et al.
Annals of Hematology, 2025
40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1
Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.
Li SS et al.
Experimental Hematology & Oncology, 2022
36243813 (PubMed )
Supplement: 40164_2022_325_MOESM2_ESM.xlsx › Sheet1
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Cooley Coleman JA et al.
American Journal of Medical Genetics. Part A, 2021
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.
Wan L et al.
Frontiers in Pediatrics, 2021
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Harrington AJ et al.
Biological Psychiatry, 2020
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2019
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
Wang J et al.
Bmc Medical Genetics, 2018
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
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