Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell (2010) 7.51

Clan genomics and the complex architecture of human disease. Cell (2011) 4.53

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol (2012) 2.42

Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet (2011) 1.93

Epigenetic mechanisms in neurological disease. Nat Med (2012) 1.74

Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev (2013) 1.70

The MECP2 duplication syndrome. Am J Med Genet A (2010) 1.68

Genomic copy number variation in disorders of cognitive development. J Am Acad Child Adolesc Psychiatry (2010) 1.47

From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nat Rev Neurosci (2015) 1.44

The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep (2010) 1.37

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A (2010) 1.31

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet (2012) 1.26

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet (2011) 1.25

A review of the role of female gender in autism spectrum disorders. J Autism Dev Disord (2013) 1.24

The impact of MeCP2 loss- or gain-of-function on synaptic plasticity. Neuropsychopharmacology (2012) 1.22

The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci (2012) 1.18

A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. J Neurosci (2012) 1.18

The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Dev (2013) 1.12

Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: initial studies and future directions. Autism Res (2011) 1.11

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism Res (2012) 1.10

Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci (2016) 1.04

MECP2 disorders: from the clinic to mice and back. J Clin Invest (2015) 1.02

Age-dependent decrease and alternative splicing of methionine synthase mRNA in human cerebral cortex and an accelerated decrease in autism. PLoS One (2013) 1.02

Disease mutations in disordered regions--exception to the rule? Mol Biosyst (2011) 1.01

A genomic point-of-view on environmental factors influencing the human brain methylome. Epigenetics (2011) 1.00

MECP2 Duplication Syndrome. Mol Syndromol (2011) 0.99

De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet (2011) 0.96

Novel clinical finding in MECP2 duplication syndrome. Eur Child Adolesc Psychiatry (2011) 0.95

Unlocking epigenetic codes in neurogenesis. Genes Dev (2014) 0.89

Polymorphisms in interleukin-1B (IL-1B) and interleukin 1 receptor antagonist (IL-1RN) genes associate with gastric cancer risk in the Chinese population. Dig Dis Sci (2011) 0.88

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Eur J Med Genet (2012) 0.88

Synaptic plasticity, neural circuits, and the emerging role of altered short-term information processing in schizophrenia. Front Synaptic Neurosci (2014) 0.87

In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system. Eur J Neurosci (2011) 0.86

Dysregulation of glutamine transporter SNAT1 in Rett syndrome microglia: a mechanism for mitochondrial dysfunction and neurotoxicity. J Neurosci (2015) 0.85

MECP2 duplication phenotype in symptomatic females: report of three further cases. Mol Cytogenet (2014) 0.84

Does microglial dysfunction play a role in autism and Rett syndrome? Neuron Glia Biol (2012) 0.84

Brief report: regression timing and associated features in MECP2 duplication syndrome. J Autism Dev Disord (2013) 0.84

Drosophila modeling of heritable neurodevelopmental disorders. Curr Opin Neurobiol (2011) 0.84

Neuronal morphology in MeCP2 mouse models is intrinsically variable and depends on age, cell type, and Mecp2 mutation. Neurobiol Dis (2013) 0.84

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet (2014) 0.83

The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. Autism Res (2012) 0.83

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. Hum Genet (2014) 0.82

Mild expression differences of MECP2 influencing aggressive social behavior. EMBO Mol Med (2014) 0.82

Cytosine modifications in neurodevelopment and diseases. Cell Mol Life Sci (2013) 0.81

Subclinical inflammatory status in Rett syndrome. Mediators Inflamm (2014) 0.81

Genetic insights into the functional elements of language. Hum Genet (2013) 0.80

Induced gamma oscillations differentiate familiar and novel voices in children with MECP2 duplication and Rett syndromes. J Child Neurol (2014) 0.79

Abnormalities in the zinc-metalloprotease-BDNF axis may contribute to megalencephaly and cortical hyperconnectivity in young autism spectrum disorder patients. Mol Brain (2014) 0.79

Role of mecp2 in experience-dependent epigenetic programming. Genes (Basel) (2015) 0.79

GABAA receptor antagonism ameliorates behavioral and synaptic impairments associated with MeCP2 overexpression. Neuropsychopharmacology (2014) 0.79

MeCP2 plays an analgesic role in pain transmission through regulating CREB / miR-132 pathway. Mol Pain (2015) 0.78

Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol (2015) 0.78

MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution. BMC Genet (2015) 0.78

CAGE-defined promoter regions of the genes implicated in Rett Syndrome. BMC Genomics (2014) 0.78

Altered neuronal network and rescue in a human MECP2 duplication model. Mol Psychiatry (2015) 0.78

Epigenetic mechanisms may underlie the aetiology of sex differences in mental health risk and resilience. J Neuroendocrinol (2013) 0.78

Regulation and function of stimulus-induced phosphorylation of MeCP2. Front Biol (Beijing) (2014) 0.77

Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Mol Autism (2016) 0.77

Astrocyte-specific regulation of hMeCP2 expression in Drosophila. Biol Open (2014) 0.76

A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. Front Cell Neurosci (2016) 0.76

Common microRNAs Target Established ASD Genes. Front Neurol (2014) 0.76

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet (2012) 0.76

Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. Int J Mol Sci (2017) 0.75

17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome. BMC Res Notes (2015) 0.75

Binding of MBD proteins to DNA blocks Tet1 function thereby modulating transcriptional noise. Nucleic Acids Res (2016) 0.75

A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes. BMC Med Genet (2017) 0.75

Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. Proc Natl Acad Sci U S A (2017) 0.75

Functional conservation of MBD proteins: MeCP2 and Drosophila MBD proteins alter sleep. Genes Brain Behav (2016) 0.75

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections. BMC Med Genet (2012) 0.75

MeCP2-Related Diseases and Animal Models. Diseases (2014) 0.75

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability. Mol Cytogenet (2016) 0.75

Diurnal Salivary Cortisol and Regression Status in MECP2 Duplication Syndrome. J Child Neurol (2015) 0.75

Hypersociability in the Angelman syndrome mouse model. Exp Neurol (2017) 0.75

Modifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in Disease. Front Genet (2016) 0.75

Distinct Defects in Spine Formation or Pruning in Two Gene Duplication Mouse Models of Autism. Neurosci Bull (2017) 0.75

Building dialogues between clinical and biomedical research through cross-species collaborations. Semin Cell Dev Biol (2017) 0.75

The Role of MicroRNAs in Cerebellar Development and Autism Spectrum Disorder During Embryogenesis. Mol Neurobiol (2016) 0.75

Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation. Mol Autism (2017) 0.75

Altered visual cortical processing in a mouse model of MECP2 duplication syndrome. Sci Rep (2017) 0.75

Methyl-CpG binding domain proteins inhibit interspecies courtship and promote aggression in Drosophila. Sci Rep (2017) 0.75

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet (1992) 11.38

MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (2008) 10.11

DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science (2003) 8.81

Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation. Neuron (2006) 6.50

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron (2002) 5.71

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet (2004) 4.45

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron (2007) 4.15

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87

The broad autism phenotype questionnaire. J Autism Dev Disord (2006) 3.02

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature (2008) 2.98

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78

MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev (2006) 2.71

Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron (2008) 2.36

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet (2005) 2.35

Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A (2006) 2.25

Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol (2003) 2.14

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet (2008) 2.13

MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12

IRAK1: a critical signaling mediator of innate immunity. Cell Signal (2007) 2.11

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics (2006) 2.03

Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism families. Am J Psychiatry (1999) 1.86

MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett (2000) 1.82

Autism, affective and other psychiatric disorders: patterns of familial aggregation. Psychol Med (1998) 1.74

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat (2004) 1.68

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57

Social-cognition and the broad autism phenotype: identifying genetically meaningful phenotypes. J Child Psychol Psychiatry (2007) 1.56

Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist (2004) 1.40

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet (2005) 1.39

Neurophysiology of Rett syndrome. J Child Neurol (2005) 1.36

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet (2008) 1.18

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl (2006) 1.07

Multiplex genome engineering using CRISPR/Cas systems. Science (2013) 55.53

The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81

Millisecond-timescale, genetically targeted optical control of neural activity. Nat Neurosci (2005) 28.08

Towards a proteome-scale map of the human protein-protein interaction network. Nature (2005) 24.76

One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell (2013) 24.00

DNA targeting specificity of RNA-guided Cas9 nucleases. Nat Biotechnol (2013) 19.99

Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85

RNA-guided editing of bacterial genomes using CRISPR-Cas systems. Nat Biotechnol (2013) 15.51

Targeting DNA double-strand breaks with TAL effector nucleases. Genetics (2010) 14.49

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57

Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity. Cell (2013) 13.37

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25

Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44

Genome architecture, rearrangements and genomic disorders. Trends Genet (2002) 12.26

Driving fast-spiking cells induces gamma rhythm and controls sensory responses. Nature (2009) 11.74

Parvalbumin neurons and gamma rhythms enhance cortical circuit performance. Nature (2009) 10.79

MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (2008) 10.11

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell (2007) 9.81

Trinucleotide repeat disorders. Annu Rev Neurosci (2007) 9.45

Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01

Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet (2010) 8.89

Selection-free zinc-finger-nuclease engineering by context-dependent assembly (CoDA). Nat Methods (2010) 8.86

Phasic firing in dopaminergic neurons is sufficient for behavioral conditioning. Science (2009) 8.76

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell (2006) 8.61

Neural substrates of awakening probed with optogenetic control of hypocretin neurons. Nature (2007) 8.22

The story of Rett syndrome: from clinic to neurobiology. Neuron (2007) 8.08

Structural variation in the human genome and its role in disease. Annu Rev Med (2010) 7.85

An optical neural interface: in vivo control of rodent motor cortex with integrated fiberoptic and optogenetic technology. J Neural Eng (2007) 7.74

The Genomes of Oryza sativa: a history of duplications. PLoS Biol (2005) 7.67

Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64

Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet (2008) 7.33

A transcription activator-like effector toolbox for genome engineering. Nat Protoc (2012) 6.81

A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet (2009) 6.39

Targeting and readout strategies for fast optical neural control in vitro and in vivo. J Neurosci (2007) 6.28

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature (2010) 5.11

Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76

Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet (2005) 4.66

Excitatory transmission from the amygdala to nucleus accumbens facilitates reward seeking. Nature (2011) 4.58

Mechanisms for human genomic rearrangements. Pathogenetics (2008) 4.54

Whole-genome sequencing for optimized patient management. Sci Transl Med (2011) 4.51

Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet (2002) 4.51

A TALEN genome-editing system for generating human stem cell-based disease models. Cell Stem Cell (2012) 4.49

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet (2004) 4.47

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet (2004) 4.45

Completing the map of human genetic variation. Nature (2007) 4.38

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron (2007) 4.15

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10

Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genet (2012) 4.05

Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol (2010) 4.03

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med (2014) 4.00

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature (2007) 3.91

Overexpression of long non-coding RNA HOTAIR predicts tumor recurrence in hepatocellular carcinoma patients following liver transplantation. Ann Surg Oncol (2011) 3.88

Rates of adult schizophrenia following prenatal exposure to the Chinese famine of 1959-1961. JAMA (2005) 3.83

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet (2006) 3.80

Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76

Targeted optogenetic stimulation and recording of neurons in vivo using cell-type-specific expression of Channelrhodopsin-2. Nat Protoc (2010) 3.71

Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci (2006) 3.69

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature (2008) 3.68

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron (2006) 3.65

Global and local fMRI signals driven by neurons defined optogenetically by type and wiring. Nature (2010) 3.61

Comprehensive interrogation of natural TALE DNA-binding modules and transcriptional repressor domains. Nat Commun (2012) 3.60

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53

Programmable repression and activation of bacterial gene expression using an engineered CRISPR-Cas system. Nucleic Acids Res (2013) 3.51

Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol (2005) 3.44

The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. Development (2002) 3.41

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40

Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39

ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell (2006) 3.39

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33

Activation of specific interneurons improves V1 feature selectivity and visual perception. Nature (2012) 3.27

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26

Long non-coding RNA MALAT-1 overexpression predicts tumor recurrence of hepatocellular carcinoma after liver transplantation. Med Oncol (2011) 3.24

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet (2002) 3.12

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03

Biological applications of gold nanoparticles. Chem Soc Rev (2008) 3.01

The basics of translation. Science (2013) 3.00

A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry (2011) 2.99

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature (2008) 2.98

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature (2005) 2.98

Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes Dev (2005) 2.94

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet (2007) 2.94

Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron (2005) 2.93

Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93

Genetic evidence supports demic diffusion of Han culture. Nature (2004) 2.92

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A (2005) 2.90

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84

Crystal structure of the channelrhodopsin light-gated cation channel. Nature (2012) 2.83