Published in Autism Res on April 12, 2011
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
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science (2003) 4.48
Diffusion tensor imaging of the corpus callosum in Autism. Neuroimage (2006) 3.48
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
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
A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction. PLoS Genet (2008) 3.25
A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet (2011) 3.13
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Am J Med Genet A (2006) 3.01
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91
Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proc Natl Acad Sci U S A (2005) 2.76
Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution. Nat Genet (2013) 2.76
A new NOS2 promoter polymorphism associated with increased nitric oxide production and protection from severe malaria in Tanzanian and Kenyan children. Lancet (2002) 2.69
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA (2013) 2.58
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
Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet (2013) 2.41
Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia. Nat Neurosci (2004) 2.28
Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S. J Neurosci (2010) 2.20
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Twenty-year outcome for individuals with autism and average or near-average cognitive abilities. Autism Res (2009) 2.06
Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci U S A (2010) 1.85
Gene expression patterns associated with posttraumatic stress disorder following exposure to the World Trade Center attacks. Biol Psychiatry (2009) 1.85
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci (2009) 1.84
Diffusion tensor imaging of white matter in the superior temporal gyrus and temporal stem in autism. Neurosci Lett (2007) 1.84
Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes. Nicotine Tob Res (2009) 1.84
Repetitive behavior profiles in Asperger syndrome and high-functioning autism. J Autism Dev Disord (2005) 1.82
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet (2010) 1.80
Autism, regression, and the broader autism phenotype. Am J Med Genet (2002) 1.80
Performance on Cambridge Neuropsychological Test Automated Battery subtests sensitive to frontal lobe function in people with autistic disorder: evidence from the Collaborative Programs of Excellence in Autism network. J Autism Dev Disord (2004) 1.79
Acute air pollution exposure and risk of suicide completion. Am J Epidemiol (2015) 1.73
Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci (2012) 1.71
Face processing in children with autism: effects of stimulus contents and type. Autism (2007) 1.69
Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet (2008) 1.66
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet (2007) 1.65
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementia. Arch Neurol (2009) 1.61
Family-based association tests for sequence data, and comparisons with population-based association tests. Eur J Hum Genet (2013) 1.55
Early regression in social communication in autism spectrum disorders: a CPEA Study. Dev Neuropsychol (2005) 1.54
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet (2013) 1.53
HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity. Nat Neurosci (2012) 1.52
Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Genomics (2013) 1.51
The amyloid precursor protein and its regulatory protein, FE65, in growth cones and synapses in vitro and in vivo. J Neurosci (2003) 1.50
Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p. Hum Genet (2003) 1.50
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet (2013) 1.48
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet (2011) 1.43
Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am J Psychiatry (2004) 1.40
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Am J Hum Genet (2013) 1.39
A genome-wide study reveals copy number variants exclusive to childhood obesity cases. Am J Hum Genet (2010) 1.36
Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia. Prog Neurobiol (2010) 1.36
Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res (2010) 1.35
The relationship between executive functioning, central coherence, and repetitive behaviors in the high-functioning autism spectrum. Autism (2007) 1.34
Utility of the Gilliam Autism Rating Scale in research and clinical populations. J Autism Dev Disord (2002) 1.34
Autistic disorder and viral infections. J Neurovirol (2005) 1.33
Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's disease. Neurobiol Aging (2006) 1.32
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism (2013) 1.32