Published in Am J Hum Genet on January 01, 2008
Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet (2008) 12.18
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Identifying autism loci and genes by tracing recent shared ancestry. Science (2008) 7.72
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13
Evolution of the neocortex: a perspective from developmental biology. Nat Rev Neurosci (2009) 5.51
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
A functional genetic link between distinct developmental language disorders. N Engl J Med (2008) 4.99
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell (2011) 4.58
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet (2009) 3.25
Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry (2010) 3.07
Interneuron dysfunction in psychiatric disorders. Nat Rev Neurosci (2012) 2.87
Autism: many genes, common pathways? Cell (2008) 2.63
Genetics of autism spectrum disorders. Trends Cogn Sci (2011) 2.61
The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci (2011) 2.61
Autism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisited. J Am Acad Child Adolesc Psychiatry (2009) 2.49
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
Genome-wide association scan for five major dimensions of personality. Mol Psychiatry (2008) 2.29
Disruption of contactin 4 in three subjects with autism spectrum disorder. J Med Genet (2008) 2.19
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet (2009) 2.15
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet (2010) 2.12
Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice. Autism Res (2008) 2.08
Genome-scale approaches to the epigenetics of common human disease. Virchows Arch (2009) 2.02
The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatr Res (2009) 2.01
Chronic pain as a manifestation of potassium channel-complex autoimmunity. Neurology (2012) 2.00
Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol (2014) 1.99
Assessing batch effects of genotype calling algorithm BRLMM for the Affymetrix GeneChip Human Mapping 500 K array set using 270 HapMap samples. BMC Bioinformatics (2008) 1.98
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am J Hum Genet (2010) 1.79
A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples. Behav Genet (2009) 1.75
Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Sci Transl Med (2010) 1.72
Autism genetics: searching for specificity and convergence. Genome Biol (2012) 1.70
Molecular genetics of addiction and related heritable phenotypes: genome-wide association approaches identify "connectivity constellation" and drug target genes with pleiotropic effects. Ann N Y Acad Sci (2008) 1.69
Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Behav Genet (2010) 1.67
Parental obesity and risk of autism spectrum disorder. Pediatrics (2014) 1.65
A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits. Biol Psychiatry (2010) 1.62
Traits contributing to the autistic spectrum. PLoS One (2010) 1.59
The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron (2010) 1.57
Common DNA methylation alterations in multiple brain regions in autism. Mol Psychiatry (2013) 1.51
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Distinct transcriptomes define rostral and caudal serotonin neurons. J Neurosci (2010) 1.43
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Med (2010) 1.41
Multiple rare variants in the etiology of autism spectrum disorders. Dialogues Clin Neurosci (2009) 1.39
Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives. Autism Res (2009) 1.39
Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med (2009) 1.37
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet (2012) 1.36
Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry (2011) 1.36
Technical reproducibility of genotyping SNP arrays used in genome-wide association studies. PLoS One (2012) 1.36
Shining a light on CNTNAP2: complex functions to complex disorders. Eur J Hum Genet (2013) 1.34
A comprehensive genetic association study of Alzheimer disease in African Americans. Arch Neurol (2011) 1.33
Genetic advances in the study of speech and language disorders. Neuron (2010) 1.33
A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. Twin Res Hum Genet (2010) 1.30
Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2. Brain Connect (2011) 1.29
Contactins: emerging key roles in the development and function of the nervous system. Cell Adh Migr (2009) 1.28
Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One (2009) 1.27
Current developments in the genetics of autism: from phenome to genome. J Neuropathol Exp Neurol (2008) 1.26
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet (2009) 1.24
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
Cerebral asymmetry and language development: cause, correlate, or consequence? Science (2013) 1.23
The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am (2010) 1.21
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet (2008) 1.21
Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry (2009) 1.19
Overlaps between autism and language impairment: phenomimicry or shared etiology? Behav Genet (2010) 1.18
Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron (2010) 1.17
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet (2010) 1.17
Deleterious GRM1 mutations in schizophrenia. PLoS One (2012) 1.16
Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments. Neuropsychopharmacology (2011) 1.15
Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. Neuroimage (2010) 1.15
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet (2010) 1.14
Recent advances in Tourette syndrome. Curr Opin Neurol (2011) 1.13
What does CNTNAP2 reveal about autism spectrum disorder? Trends Mol Med (2012) 1.12
Association of common variants in the Joubert syndrome gene (AHI1) with autism. Hum Mol Genet (2008) 1.12
Intrauterine inflammation, insufficient to induce parturition, still evokes fetal and neonatal brain injury. Int J Dev Neurosci (2011) 1.10
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet (2011) 1.08
Using zebrafish to assess the impact of drugs on neural development and function. Expert Opin Drug Discov (2009) 1.08
Recent advances in the genetics of language impairment. Genome Med (2010) 1.06
Epigenetic epidemiology: promises for public health research. Environ Mol Mutagen (2014) 1.06
Contactin 4 as an autism susceptibility locus. Autism Res (2011) 1.05
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses. Front Mol Neurosci (2013) 1.04
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Exp Mol Med (2013) 1.04
OKCAM: an ontology-based, human-centered knowledgebase for cell adhesion molecules. Nucleic Acids Res (2008) 1.01
Assessing sources of inconsistencies in genotypes and their effects on genome-wide association studies with HapMap samples. Pharmacogenomics J (2010) 1.00
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders. Mol Syndromol (2015) 1.00
Human brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behavior. Neuron (2010) 0.99
The genetics of Tourette disorder. Curr Opin Genet Dev (2011) 0.99
Synaptic proteins and receptors defects in autism spectrum disorders. Front Cell Neurosci (2014) 0.98
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet (2013) 0.98
Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics. Curr Top Behav Neurosci (2016) 0.97
The Genetic Basis of Thought Disorder and Language and Communication Disturbances in Schizophrenia. J Neurolinguistics (2010) 0.97
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One (2013) 0.97
The Long and the Short of it: Gene and Environment Interactions During Early Cortical Development and Consequences for Long-Term Neurological Disease. Front Psychiatry (2012) 0.97
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. Hum Mol Genet (2012) 0.96
An inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological disease. Front Cell Neurosci (2014) 0.96
Behavioral phenotypes of genetic mouse models of autism. Genes Brain Behav (2015) 0.96
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet (2008) 7.13
Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet (2001) 5.91
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet (2004) 5.78
Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry (2005) 5.52
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med (2006) 5.28
Combining information from multiple sources in the diagnosis of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry (2006) 5.23
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
Analysis of family resemblance. I. Introduction. Am J Hum Genet (1974) 4.34
Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol (2003) 3.80
Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron (1999) 3.52
Common fragile sites, extremely large genes, neural development and cancer. Cancer Lett (2005) 3.24
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics (2003) 2.29
Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs. Mol Psychiatry (2005) 1.87
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet (2005) 18.98
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res (2003) 14.79
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
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics (2010) 13.54
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature (2003) 5.96
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet (2004) 5.78
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
Combining information from multiple sources in the diagnosis of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry (2006) 5.23
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A (2005) 4.64
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
Genomic alterations in cultured human embryonic stem cells. Nat Genet (2005) 3.89
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet (2009) 3.80
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet (2004) 3.65
High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett (2006) 3.64
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci Transl Med (2012) 3.53
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci U S A (2008) 3.39
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet (2011) 3.18
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry (2011) 2.99
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Human embryonic stem cells have a unique epigenetic signature. Genome Res (2006) 2.89
A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens (2003) 2.76
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet (2002) 2.74
Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A (2002) 2.70
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
Genome-wide analyses of steroid- and radiation-triggered programmed cell death in Drosophila. Curr Biol (2003) 2.59
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation (2009) 2.55
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet (2012) 2.55
The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res (2004) 2.54
Public stem cell banks: considerations of justice in stem cell research and therapy. Hastings Cent Rep (2004) 2.53
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51
Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays. Genome Res (2004) 2.47
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron (2013) 2.45
Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. Neurosci Lett (2007) 2.38
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
Multiple genes for essential-hypertension susceptibility on chromosome 1q. Am J Hum Genet (2006) 2.34
Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet (2005) 2.33
Between a ROC and a hard place: decision making and making decisions about using the SCQ. J Child Psychol Psychiatry (2007) 2.26
Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered (2007) 2.26
The centrosome in human genetic disease. Nat Rev Genet (2005) 2.25
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12