ReviewJournal of pediatric genetics2017
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.
Review in Journal of pediatric genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 47 citations in OpenAlex.
- Brief Report: Quantifying Speech Production Coordination from Non- and Minimally-Speaking Individuals.Journal of autism and developmental disorders · 2026Article
- Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease.Nature immunology · 2025Article
- MEF2C Hypofunction in GABAergic Cells Alters Sociability and Prefrontal Cortex Inhibitory Synaptic Transmission in a Sex-Dependent Manner.Biological psychiatry global open science · 2024Article
- Whole-brain in vivo base editing reverses behavioral changes in Mef2c-mutant mice.Nature neuroscience · 2024Article
- Genes positively regulated by Mef2c in cortical neurons are enriched for common genetic variation associated with IQ and educational attainment.Human molecular genetics · 2023Article
- Renin Cell Development: Insights From Chromatin Accessibility and Single-Cell Transcriptomics.Circulation research · 2023Article
- The Role of MEF2 Transcription Factor Family in Neuronal Survival and Degeneration.International journal of molecular sciences · 2023Review
- Evolutionary Landscape ofGenes · 2023Article
- MEF2C gene variations are associated with ADHD in the Chinese Han population: a case-control study.Journal of neural transmission (Vienna, Austria : 1996) · 2022Article
- The Cell Adhesion Molecule L1 Interacts with Methyl CpG Binding Protein 2 via Its Intracellular Domain.International journal of molecular sciences · 2022Article
- Progress on the roles of MEF2C in neuropsychiatric diseases.Molecular brain · 2022Review
- Identification of a novel mutation in MEF2C gene in an atypical patient with frontotemporal lobar degeneration.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.Brain : a journal of neurology · 2021Article
- Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.American journal of human genetics · 2021Article
- Involvement of myocyte enhancer factor 2c in the pathogenesis of autism spectrum disorder.Heliyon · 2021Review
- Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations.Frontiers in pediatrics · 2021Article
- Article
- TGF-β3/Smad3 Contributes to Isoflurane Postconditioning Against Cerebral Ischemia-Reperfusion Injury by Upregulating MEF2C.Cellular and molecular neurobiology · 2020Article
- MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.Biological psychiatry · 2020Article
- Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.Scientific reports · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.