Associated Papers
Comparative analysis of clinical phenotypes and genetic characteristics in MEF2C-associated neurodevelopmental disorders.
Li X et al.
Seizure, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
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Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant mice.
Li WK et al.
Nature Neuroscience, 2024
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
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
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
Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.
Vrečar I et al.
Journal of Pediatric Genetics, 2017
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