Associated Papers
Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.
Li X et al.
Seizure, 2026
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
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 2021
34215733 (PubMed )
Supplement: 41467_2021_24168_MOESM5_ESM.xlsx › SD2d
Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.
Wan L et al.
Frontiers in Pediatrics, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
Zhou WZ et al.
Human Mutation, 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
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
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