Published in Eur J Hum Genet on March 30, 2011
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
GABA system dysfunction in autism and related disorders: from synapse to symptoms. Neurosci Biobehav Rev (2012) 1.61
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet (2012) 1.51
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet (2011) 1.42
Shining a light on CNTNAP2: complex functions to complex disorders. Eur J Hum Genet (2013) 1.34
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Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. Hum Mol Genet (2012) 0.96
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Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Case Rep Genet (2012) 0.88
Epigenetic layers and players underlying neurodevelopment. Trends Neurosci (2013) 0.88
Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders. Neuropharmacology (2013) 0.87
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. Hum Mol Genet (2013) 0.87
Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum. Mol Syndromol (2011) 0.85
Autism genes keep turning up chromatin. OA Autism (2013) 0.84
Chromatin regulators, phenotypic robustness, and autism risk. Front Genet (2014) 0.83
Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach. Mol Psychiatry (2014) 0.81
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. Pancreas (2016) 0.80
Essential role of GluD1 in dendritic spine development and GluN2B to GluN2A NMDAR subunit switch in the cortex and hippocampus reveals ability of GluN2B inhibition in correcting hyperconnectivity. Neuropharmacology (2015) 0.79
Deletion of glutamate delta-1 receptor in mouse leads to enhanced working memory and deficit in fear conditioning. PLoS One (2013) 0.79
Creating a neural specific chromatin landscape by npBAF and nBAF complexes. Curr Opin Neurobiol (2013) 0.79
Glutamatergic candidate genes in autism spectrum disorder: an overview. J Neural Transm (Vienna) (2014) 0.78
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. Front Cell Neurosci (2016) 0.76
Mutation of neuron-specific chromatin remodeling subunit BAF53b: rescue of plasticity and memory by manipulating actin remodeling. Learn Mem (2017) 0.75
Pioneering geneticist Mary-Claire King receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science. J Clin Invest (2014) 0.75
Stratification of gene coexpression patterns and GO function mining for a RNA-Seq data series. Biomed Res Int (2014) 0.75
Glutamate Delta-1 Receptor Regulates Metabotropic Glutamate Receptor 5 Signaling in the Hippocampus. Mol Pharmacol (2016) 0.75
Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay. Sultan Qaboos Univ Med J (2013) 0.75
A GluD Coming-Of-Age Story. Trends Neurosci (2017) 0.75
Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders. Mol Psychiatry (2017) 0.75
Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. Int J Mol Sci (2017) 0.75
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Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med (1995) 12.70
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Identifying autism loci and genes by tracing recent shared ancestry. Science (2008) 7.72
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13
Copy-number variations associated with neuropsychiatric conditions. Nature (2008) 6.78
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways. Nucleic Acids Res (2006) 6.20
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet (2008) 5.28
Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch Gen Psychiatry (2009) 3.32
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control. EMBO J (2007) 2.75
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci U S A (2009) 2.04
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis (2008) 1.97
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics (2009) 1.58
A comparison between screened NIMH and clinically interviewed control samples on neuroticism and extraversion. Mol Psychiatry (2007) 1.31
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. Hum Mol Genet (2002) 1.15
Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. Hum Mol Genet (2009) 1.11
Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome. Am J Hum Genet (2000) 1.10
Beckwith Weidemann syndrome: a behavioral phenotype-genotype study. Am J Med Genet B Neuropsychiatr Genet (2008) 1.03
Maternal transmission disequilibrium of the glutamate receptor GRIK2 in schizophrenia. Neuroreport (2004) 0.90
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Genetic heterogeneity in human disease. Cell (2010) 10.67
Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res (2003) 7.86
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
Modelling schizophrenia using human induced pluripotent stem cells. Nature (2011) 7.41
An RNA gene expressed during cortical development evolved rapidly in humans. Nature (2006) 7.23
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13
Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
A distal enhancer and an ultraconserved exon are derived from a novel retroposon. Nature (2006) 5.98
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Completing the map of human genetic variation. Nature (2007) 4.38
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell (2012) 4.03
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51
A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A (2007) 3.47
Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45
Forces shaping the fastest evolving regions in the human genome. PLoS Genet (2006) 3.32
Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch Gen Psychiatry (2009) 3.32
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet (2009) 3.25
High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron (2011) 3.08
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Quality of life after total laparoscopic hysterectomy versus total abdominal hysterectomy for stage I endometrial cancer (LACE): a randomised trial. Lancet Oncol (2010) 2.89
Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58
JunB protects against myeloid malignancies by limiting hematopoietic stem cell proliferation and differentiation without affecting self-renewal. Cancer Cell (2009) 2.41
Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72
Efficacy and tolerability of second-generation antipsychotics in children and adolescents with schizophrenia. Schizophr Bull (2007) 1.69
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A (2010) 1.64
Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50