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References from A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism. Local targets link to admitted publications; unresolved targets remain external evidence.
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Syndromic Autism Revisited: Review of the Literature and Lessons Learned
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Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020
10.15585/mmwr.ss7202a1 · 2023 · External reference
Sex differences in autism spectrum disorders
10.1097/wco.0b013e32835ee548 · 2013 · External reference
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders
2025 · External reference
DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review
10.1038/s41431-025-01832-x · 2025 · External reference
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
10.1093/hmg/ddu002 · 2014 · External reference
WDR45 mutations in three male patients with West syndrome
10.1038/jhg.2016.27 · 2016 · External reference
NAA10-related syndrome
10.1038/s12276-018-0098-x · 2018 · External reference
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure
10.1111/j.1399-0004.2008.01005.x · 2008 · External reference
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
10.1038/13810 · 1999 · External reference
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
10.1086/444549 · 2005 · External reference
A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome
10.1086/339553 · 2002 · External reference
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
10.1002/humu.10130 · 2002 · External reference
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
10.1038/85899 · 2001 · External reference
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
10.1038/85906 · 2001 · External reference
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
10.1093/hmg/ddh282 · 2004 · External reference
Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions
10.1101/gad.345397.120 · 2021 · External reference
Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation
10.4161/epi.1.4.3514 · 2006 · External reference
Haplotype-based variant detection from short-read sequencing
2012 · External reference
Scaling accurate genetic variant discovery to tens of thousands of samples
2018 · External reference
Recent ultra-rare inherited variants implicate new autism candidate risk genes
10.1038/s41588-021-00899-8 · 2021 · External reference
Single-cell epigenomics reveals mechanisms of human cortical development
10.1038/s41586-021-03209-8 · 2021 · External reference
A Chromatin Accessibility Atlas of the Developing Human Telencephalon
10.1016/j.cell.2020.06.002 · 2020 · External reference
FIMO: scanning for occurrences of a given motif
10.1093/bioinformatics/btr064 · 2011 · External reference
Genetic regulation of cell type–specific chromatin accessibility shapes brain disease etiology
10.1126/science.adh4265 · 2024 · External reference
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements
10.1038/s41596-020-0333-5 · 2020 · External reference
Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening
10.1016/j.stemcr.2017.08.019 · 2017 · External reference
Quantifying similarity between motifs
10.1186/gb-2007-8-2-r24 · 2007 · External reference
Comparative characterization of human accelerated regions in neurons
10.1038/s41586-025-08622-x · 2025 · External reference
Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes
10.1038/s41588-019-0472-1 · 2019 · External reference
Transcriptional landscape of the prenatal human brain
10.1038/nature13185 · 2014 · External reference
Prediction of potent shRNAs with a sequential classification algorithm
10.1038/nbt.3807 · 2017 · External reference
NF-Y controls fidelity of transcription initiation at gene promoters through maintenance of the nucleosome-depleted region
10.1038/s41467-019-10905-7 · 2019 · External reference
GAT: a simulation framework for testing the association of genomic intervals
10.1093/bioinformatics/btt343 · 2013 · External reference
Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities
10.1016/j.molcel.2010.05.004 · 2010 · External reference
The Human Transcription Factors
10.1016/j.cell.2018.01.029 · 2018 · External reference
Massively parallel reporter perturbation assays uncover temporal regulatory architecture during neural differentiation
10.1038/s41467-022-28659-0 · 2022 · External reference
motifbreakR: an R/Bioconductor package for predicting variant effects at transcription factor binding sites
10.1093/bioinformatics/btv470 · 2015 · External reference
Regulation of gene expression via the core promoter and the basal transcriptional machinery
10.1016/j.ydbio.2009.08.009 · 2010 · External reference
The Simons Simplex Collection: a resource for identification of autism genetic risk factors
10.1016/j.neuron.2010.10.006 · 2010 · External reference
Sequence-specific transcription factor NF-Y displays histone-like DNA binding and H2B-like ubiquitination
10.1016/j.cell.2012.11.047 · 2013 · External reference
Histone-Fold Domain Protein NF-Y Promotes Chromatin Accessibility for Cell Type-Specific Master Transcription Factors
10.1016/j.molcel.2014.07.005 · 2014 · External reference
Nuclear factor Y is a pervasive regulator of neuronal gene expression
10.1016/j.celrep.2023.113582 · 2023 · External reference
Pluripotent Stem Cell Culture Scale-Out
2021 · External reference
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
10.1016/j.ajhg.2012.12.011 · 2013 · External reference
The role of AUTS2 in neurodevelopment and human evolution
10.1016/j.tig.2013.08.001 · 2013 · External reference
MeCP2, a key contributor to neurological disease, activates and represses transcription
10.1126/science.1153252 · 2008 · External reference
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels
10.1093/hmg/ddae135 · 2024 · External reference
Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome
10.1126/scitranslmed.adq4529 · 2026 · External reference
MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons
10.1016/j.neuron.2024.04.007 · 2024 · External reference
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
10.1016/j.ajhg.2016.11.018 · 2017 · External reference
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
10.1186/s40246-021-00342-3 · 2021 · External reference
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
10.1016/j.cell.2010.10.016 · 2010 · External reference
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations
10.1038/s41398-022-02216-1 · 2022 · External reference
De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms
10.1111/cge.13198 · 2018 · External reference
A genomic mutational constraint map using variation in 76,156 human genomes
10.1038/s41586-023-06045-0 · 2024 · External reference
Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes
10.1016/j.ajhg.2025.02.001 · 2025 · External reference
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
10.1038/nature09582 · 2010 · External reference
Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome
10.1002/ajmg.c.31800 · 2020 · External reference
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
10.1038/s41467-022-34264-y · 2022 · External reference
