ReviewEuropean journal of human genetics : EJHG2016
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Review in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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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.
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Who cites it
18 citing papers in PubMed.
- Autism spectrum disorder risk genes have convergent effects on transcription and neuronal firing patterns in primary neurons.Genome research · 2025Article
- Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes.Molecular autism · 2025Article
- Association between the methyl-CpG-binding domain protein 5 gene and depressive symptoms in a Mexican population: results from the MxGDAR/Encodat cohort.Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) · 2025Article
- Oligogenic inheritance in severe adult obesity.International journal of obesity (2005) · 2024Article
- Zebrafish Mbd5 binds to RNA m5C and regulates histone deubiquitylation and gene expression in development metabolism and behavior.Nucleic acids research · 2024Article
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 2024Article
- Article
- A Novel Genetic Variant inInternational journal of molecular sciences · 2023Article
- RINGs, DUBs and Abnormal Brain Growth-Histone H2A Ubiquitination in Brain Development and Disease.Epigenomes · 2022Review
- Germline mosaicism in a family withCold Spring Harbor molecular case studies · 2022Article
- Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice.Acta neurologica Belgica · 2022Article
- Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.Journal of human genetics · 2021Article
- Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.Journal of autism and developmental disorders · 2021Article
- Emerging multifaceted roles of BAP1 complexes in biological processes.Cell death discovery · 2021Review
- Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia.Frontiers in genetics · 2021Article
- Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.Brain communications · 2021Article
- Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.American journal of human genetics · 2019Article
- A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?Molecular genetics & genomic medicine · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
MBD5-associated neurodevelopmental disorder (MAND) is an umbrella term that describes a group of disorders, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, and MBD5 variants, that affect the function of methyl-binding domain 5 (MBD5) and share a common set of neurodevelopmental, cognitive, and behavioral impairments. This review provides a comprehensive clinical and molecular synopsis of 2q23.1 deletion syndrome. Approaches to diagnosis, genetic counseling, and up-to-date management are summarized, followed by a discussion of the molecular and functional role of MBD5. Finally, we also include a brief summary of MBD5 variants that affect function of MBD5 and 2q23.1 duplication syndrome.
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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.