Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

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Chromatin regulators, phenotypic robustness, and autism risk

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Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders

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Schizophrenia two‐hit hypothesis in velo‐cardio facial syndrome

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Etiological Heterogeneity in Autism Spectrum Disorders

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Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31

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Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

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Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

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Next-Generation Sequencing in Intellectual Disability

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2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

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Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH

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Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

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Genetic insights into the functional elements of language

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MBD5 and MBD6 stabilize the BAP1 complex and promote BAP1-dependent cancer

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CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens

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3D-GNOME 2.0: a three-dimensional genome modeling engine for predicting structural variation-driven alterations of chromatin spatial structure in the human genome

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Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons

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Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

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Epigenetic regulation of craniofacial development and disease

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Epilepsy genetics: The ongoing revolution

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Identification and functional characterization of methyl-CpG binding domain protein from Tribolium castaneum

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Neuroepigenomics: resources, obstacles, and opportunities

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Systems Genetics of the Lateral Septal Nucleus in Mouse: Heritability, Genetic Control, and Covariation with Behavioral and Morphological Traits

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Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

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Optical genome mapping for prenatal diagnosis: A prospective study

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RINGs, DUBs and Abnormal Brain Growth—Histone H2A Ubiquitination in Brain Development and Disease

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A critical review of the impact of candidate copy number variants on autism spectrum disorder

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2-Ethylhexanol induces autism-like neurobehavior and neurodevelopmental disorders in zebrafish

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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

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A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity

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Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder

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Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice

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Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells

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Autism spectrum disorder model mice: Focus on copy number variation and epigenetics

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2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

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Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?

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Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing

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Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

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Autism Spectrum Disorders

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Autosomal Reciprocal Translocations

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A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations

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Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy

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A novel interstitial deletion of chromosome 2q21.1‐q23.3: Case report and literature review

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Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders

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Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes.

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Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

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MBD5 regulates NMDA receptor expression and seizures by inhibiting Stat1 transcription

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Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression

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Inherited 2q23.1 microdeletions involving the MBD5 locus

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A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

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Chromosome Instability Syndromes

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Writers, erasers, and readers of DNA and histone methylation marks

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A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia

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Oligogenic inheritance in severe adult obesity

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Deregulated mRNA and microRNA Expression Patterns in the Prefrontal Cortex of the BTBR Mouse Model of Autism

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Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders

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Inhibitors targeting the PWWP domain-containing proteins

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Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders

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Causes of Congenital Malformations

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Composite Sleep Problems Observed Across Smith–Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt–Hopkins Syndrome, and ASD

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Spatial Chromatin Architecture Alteration by Structural Variations in Human Genomes at Population ScalePreprint

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Epigenetics in intellectual disability

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Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study

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The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

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Getting to the bottom of autism spectrum and related disorders: MBD5 as a key contributor

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Higher scores on autonomic symptom scales in pediatric patients with neurodevelopmental disorders of known genetic etiology

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From GWAS to Next-Generation Sequencing on Human Complex Diseases: The Implications for Translational Medicine and Therapeutics

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Autosomal Ring Chromosomes

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The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis

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Genetic mechanisms of neurodevelopmental disorders

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Germline mosaicism in a family withMBD5haploinsufficiencyPreprint

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On the spot: very local chromosomal rearrangements

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Trapping MBD5 to understand 2q23.1 microdeletion syndrome

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MBD5‐ related intellectual disability in a Vietnamese child

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Case report of a female with bipolar disorder and MBD5 deletion

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Chromosome Abnormalities Detected at Prenatal Diagnosis

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Food Intake and Food Preference

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The Origins and Consequences of Chromosome Pathology

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Elements of Medical Cytogenetics

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Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models

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Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene

González‐Ortega, G., Velasco, S. L., Arteche‐López, A., Quesada‐Espinosa, J. F., Puertas‐Martín, V., Gómez‐Grande, A., López‐Álvarez, J., Díaz, R. A. S., Rosales, J. M. L., Villarejo‐Galende, A., et al. (2021) · Journal of Alzheimer s Disease · doi:10.3233/jad-210648 · Cited by 2

Inversions

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0009 · Cited by 2

A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus

Silva, S., Venegas, V., Valenzuela, M., Retamales‐Moreno, Á., Muñoz‐Castro, C., Acevedo, H., Marengo, J., Okubo, M., Takada, S., & Miyake, N. (2025) · Clinical Genetics · doi:10.1111/cge.14685 · Cited by 2

Sex Chromosome Translocations

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0006 · Cited by 2

Dichotomous classification of autism spectrum disorders: syndromal and non-syndromal forms

Соловьева, Н. В., Kuvshinova, Y. V., Kichuk, I. V., Витальевна, Ч. С., Vilyanov, V. B., & Kremenitskaya, S. A. (2018) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro201811841107-112 · Cited by 2

Epigenetics in Intellectual Disability

Bérubé, N. G., & Kramer, J. M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-417114-5.00018-8 · Cited by 2

Causes of Congenital Malformations

Lammens, M. M. Y., Bekker, M. N., Willemsen, M. A. A. P., Bugiani, M., van Bokhoven, H., Ulzen, K. K.-V., & ten Donkelaar, H. J. (2023) · Springer eBooks · doi:10.1007/978-3-031-26098-8_3 · Cited by 2

Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study

Reale, C., Tessarollo, V., Bulgheroni, S., Annunziata, S., Legati, A., Riva, D., Pantaleoni, C., Garavaglia, B., & D’Arrigo, S. (2021) · Applied Sciences · doi:10.3390/app11178096 · Cited by 2

MeCP2 and Autism Spectrum Disorders

Adams, S., & LaSalle, J. M. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00031-4 · Cited by 1

Pediatric Diseases and Epigenetics

Hall, J. G. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803239-8.00023-5 · Cited by 1

The Methyl-CpG-Binding Domain (MBD) Protein Family: An Overview and Dietary Influences

Gigek, C. O., Chen, E., Filho, G. D. J. L., & Smith, M. D. A. C. (2019) · Springer eBooks · doi:10.1007/978-3-319-55530-0_79 · Cited by 1

Review article Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?

Lo‐Castro, A., & Curatolo, P. (2014) · Cited by 1

Next Generation Sequencing of Prenatal Structural Chromosomal Rearrangements Using Large-Insert Libraries

Currall, B., Antolik, C. W., Collins, R. L., & Talkowski, M. E. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-8889-1_17 · Cited by 1

Preimplantation Genetic Diagnosis

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0022 · Cited by 1

Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism

Stefanyshyn, V., Sheiko, M., Pyantkovska, N., Stetsyuk, R. A., Pokhylko, V. I., Fishchuk, L., & Rossokha, Z. I. (2024) · Journal of Molecular Neuroscience · doi:10.1007/s12031-023-02183-2 · Cited by 1

Uniparental Disomy and Disorders of Imprinting

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0018 · Cited by 1

A CNV Catalogue

Wyandt, H. E., Wilson, G. N., & Tonk, V. S. (2017) · Springer eBooks · doi:10.1007/978-981-10-3035-2_10 · Cited by 1

Sex Chromosome Aneuploidy and Structural Rearrangement

Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0015 · Cited by 1

Cytogenetic analysis in the era of highresolution molecular-cytogenetic methods: the potential of «reverse» karyotyping

Kolotii, A. D., Vorsanova, S. G., Yurov, Y. B., Куринная, О. С., Zelenova, M. A., Vasin, K. S., Ia, D., Kravets, V. S., Олегович, Ш. В., Алексеевна, Б. М., et al. (2019) · RESEARCH RESULTS IN BIOMEDICINE · doi:10.18413/2658-6533-2019-5-4-0-4 · Cited by 1

The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family

Orrico, A., Galli, L., Rossi, M., Cortesi, A., Mazzi, M., & Caterino, E. (2020) · Neuropediatrics · doi:10.1055/s-0040-1715633 · Cited by 1

Pediatric diseases and epigenetics

Hall, J. G., & Weksberg, R. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823928-5.00001-3 · Cited by 1

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Mullegama, S. V., Rosenfeld, J. A., Orellana, C., van Bon, B. W. M., Halbach, S. S., Repnikova, E. A., Brick, L., Li, C. C., Dupuis, L., Rosello, M., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.67 · Cited by 85

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Bonnet, C., Khan, A. A., Bresso, E., Vigouroux, C., Béri, M., Lejczak, S., Demeer, B., Andrieux, J., Philippe, C., Moncla, A., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.22 · Cited by 38

Uncovering the molecular pathways of MBD5 in neurodevelopmental disorders

Mullegama, S. V. (2013) · VCU Scholars Compass (Virginia Commonwealth University) · doi:10.25772/68ve-f359

Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

Mullegama, S. V., Alaimo, J. T., Chen, L., & Elsea, S. H. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16047627 · Cited by 44

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Hodge, J. C., Mitchell, E. L. D., Pillalamarri, V., Toler, T. L., Bartel, F., Kearney, H. M., Zou, Y. S., Tan, W., Hanscom, C., Kirmani, S., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.42 · Cited by 67