Published in Am J Hum Genet on June 13, 2006
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. Mol Cell (2008) 3.53
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell (2012) 3.21
H3K9 methyltransferase G9a and the related molecule GLP. Genes Dev (2011) 3.01
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Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex. Neuron (2009) 2.26
Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet (2015) 2.15
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Epigenetic regulation of learning and memory by Drosophila EHMT/G9a. PLoS Biol (2011) 1.55
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet (2012) 1.51
Epigenetic regulation in human brain-focus on histone lysine methylation. Biol Psychiatry (2008) 1.48
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Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet (2009) 1.42
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics (2007) 1.42
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet (2009) 1.40
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Linking prenatal maternal adversity to developmental outcomes in infants: the role of epigenetic pathways. Dev Psychopathol (2012) 1.39
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
REST and CoREST modulate neuronal subtype specification, maturation and maintenance. PLoS One (2009) 1.34
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Setdb1 histone methyltransferase regulates mood-related behaviors and expression of the NMDA receptor subunit NR2B. J Neurosci (2010) 1.33
PHF8 targets histone methylation and RNA polymerase II to activate transcription. Mol Cell Biol (2010) 1.25
REST and CoREST are transcriptional and epigenetic regulators of seminal neural fate decisions. Cell Cycle (2010) 1.24
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Balancing histone methylation activities in psychiatric disorders. Trends Mol Med (2011) 1.14
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Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet (2014) 1.08
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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. Hum Mol Genet (2011) 1.05
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am J Hum Genet (2014) 1.02
An analog of BIX-01294 selectively inhibits a family of histone H3 lysine 9 Jumonji demethylases. J Mol Biol (2011) 1.01
De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet (2013) 1.01
Selective inhibitors of protein methyltransferases. J Med Chem (2014) 1.01
Epigenetics of early child development. Front Psychiatry (2011) 1.01
Genetic basis of congenital cardiovascular malformations. Eur J Med Genet (2014) 1.00
Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics. Hum Genet (2010) 0.97
Chemical probes of histone lysine methyltransferases. ACS Chem Biol (2014) 0.95
Balanced translocations in mental retardation. Hum Genet (2009) 0.94
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. Hum Genet (2010) 0.92
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet (2014) 0.90
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet (2014) 0.88
Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. Annu Rev Genomics Hum Genet (2014) 0.86
Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome. Neurol Genet (2016) 0.86
Adult Phenotypes in Angelman- and Rett-Like Syndromes. Mol Syndromol (2012) 0.84
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet (2014) 0.84
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet (2016) 0.84
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring. Eur J Hum Genet (2012) 0.83
Functional Crosstalk Between Lysine Methyltransferases on Histone Substrates: The Case of G9A/GLP and Polycomb Repressive Complex 2. Antioxid Redox Signal (2014) 0.82
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Hum Mol Genet (2014) 0.82
Pre-administration of G9a/GLP inhibitor during synaptogenesis prevents postnatal ethanol-induced LTP deficits and neurobehavioral abnormalities in adult mice. Exp Neurol (2014) 0.82
Epigenetics of sleep and chronobiology. Curr Neurol Neurosci Rep (2014) 0.80
Analogues of the Natural Product Sinefungin as Inhibitors of EHMT1 and EHMT2. ACS Med Chem Lett (2014) 0.80
Investigation of genes important in neurodevelopment disorders in adult human brain. Hum Genet (2015) 0.80
The Mendelian disorders of the epigenetic machinery. Genome Res (2015) 0.79
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet (2015) 0.79
MESP1 Mutations in Patients with Congenital Heart Defects. Hum Mutat (2016) 0.79
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. BMC Med Genomics (2014) 0.78
X-linked mental retardation and epigenetics. J Cell Mol Med (2006) 0.78
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome. Case Rep Genet (2016) 0.78
Chromatin-modifying agents for epigenetic reprogramming and endogenous neural stem cell-mediated repair in stroke. Transl Stroke Res (2011) 0.78
Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects. Mol Autism (2014) 0.77
Inhibitors of Protein Methyltransferases and Demethylases. Chem Rev (2017) 0.76
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. Mol Cytogenet (2016) 0.76
Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report. Neurol Sci (2016) 0.76
Chromatin deregulation in disease. Chromosoma (2015) 0.76
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. Hum Genet (2016) 0.76
Clonidine treatment delays postnatal motor development and blocks short-term memory in young mice. PLoS One (2014) 0.75
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. Mol Genet Genomic Med (2017) 0.75
Exome sequencing identifies three novel candidate genes implicated in intellectual disability. PLoS One (2014) 0.75
Euchromatin histone methyltransferase 1 regulates cortical neuronal network development. Sci Rep (2016) 0.75
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Med Genet (2016) 0.75
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A (2017) 0.75
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. BMJ Case Rep (2009) 0.75
A Novel Kleefstra Syndrome Associated Variant that Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. J Biol Chem (2017) 0.75
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome. Mol Cytogenet (2014) 0.75
Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders. Neural Plast (2016) 0.75
Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors. J Pediatr Genet (2016) 0.75
Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation. Sci Rep (2017) 0.75
Wiz binds active promoters and CTCF-binding sites and is required for normal behaviour in the mouse. Elife (2016) 0.75
The H3K9 dimethyltransferases EHMT1/2 protect against pathological cardiac hypertrophy. J Clin Invest (2016) 0.75
Histone Lysine Methylation and Neurodevelopmental Disorders. Int J Mol Sci (2017) 0.75
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes. Mol Syndromol (2017) 0.75
Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism. Transl Psychiatry (2017) 0.75
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res (2002) 16.02
G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis. Genes Dev (2002) 10.54
SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins. Genes Dev (2002) 8.78
A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells. Science (2002) 7.33
Epigenetic codes for heterochromatin formation and silencing: rounding up the usual suspects. Cell (2002) 6.25
The many faces of histone lysine methylation. Curr Opin Cell Biol (2002) 6.01
Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9. Genes Dev (2005) 5.50
An epigenetic road map for histone lysine methylation. J Cell Sci (2003) 4.43
Nonsense-mediated mRNA decay: terminating erroneous gene expression. Curr Opin Cell Biol (2004) 3.24
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet (2005) 3.11
Localized domains of G9a-mediated histone methylation are required for silencing of neuronal genes. Mol Cell (2004) 2.73
Role of histone methyltransferase G9a in CpG methylation of the Prader-Willi syndrome imprinting center. J Biol Chem (2003) 2.25
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet (2004) 2.04
Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet (2000) 1.68
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet (2005) 1.60
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum Mol Genet (1998) 1.42
Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet (2002) 1.42
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet (2005) 1.38
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet (2004) 1.35
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet (2005) 1.08
9q34.3 deletion syndrome in three unrelated children. Am J Med Genet A (2004) 1.00
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A (2004) 0.99
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J Hum Genet (2004) 0.93
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. Am J Med Genet A (2006) 0.92
Three patients with terminal deletions within the subtelomeric region of chromosome 9q. Am J Med Genet A (2005) 0.89
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet (2004) 0.86
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet (2009) 5.84
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature (2008) 5.32
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
A text-mining analysis of the human phenome. Eur J Hum Genet (2006) 4.98
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
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
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet (2010) 3.25
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
X-linked mental retardation. Nat Rev Genet (2005) 3.10
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet (2002) 3.10
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet (2011) 2.85
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet (2002) 2.51
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet (2005) 2.38
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet (2003) 2.36
A new web-based data mining tool for the identification of candidate genes for human genetic disorders. Eur J Hum Genet (2003) 2.32
Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum (2003) 2.32
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans. Proc Natl Acad Sci U S A (2007) 2.28
Neuromuscular involvement in various types of Ehlers-Danlos syndrome. Ann Neurol (2009) 2.26
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons. Proc Natl Acad Sci U S A (2008) 2.19
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet (2006) 2.17
PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet (2009) 2.16
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
Clinical significance of de novo and inherited copy-number variation. Hum Mutat (2013) 2.08
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
p63-associated disorders. Cell Cycle (2007) 2.05
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
L1 retrotransposition can occur early in human embryonic development. Hum Mol Genet (2007) 2.04
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03