PubRank

Matthew W State

Author PubWeight™ 132.19‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012 13.61
2 Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011 10.61
3 Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005 8.20
4 Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009 7.39
5 Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010 6.26
6 Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron 2009 5.46
7 Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008 5.44
8 Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014 5.30
9 Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science 2013 3.45
10 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell 2013 2.94
11 L-histidine decarboxylase and Tourette's syndrome. N Engl J Med 2010 2.92
12 Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013 2.74
13 Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism 2012 2.67
14 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013 2.45
15 Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biol Psychiatry 2011 2.28
16 Recent advances in the genetics of autism. Biol Psychiatry 2006 2.11
17 Autism genetics: strategies, challenges, and opportunities. Autism Res 2008 2.00
18 Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet 2008 1.90
19 Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 2004 1.87
20 Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet 2010 1.86
21 A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest 2006 1.79
22 The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron 2012 1.71
23 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012 1.65
24 Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am J Hum Genet 2012 1.52
25 Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet 2013 1.48
26 Molecular characterization of a patient with 3p deletion syndrome and a review of the literature. Am J Med Genet A 2008 1.47
27 Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 2008 1.31
28 Recent developments in the genetics of autism spectrum disorders. Curr Opin Genet Dev 2013 1.27
29 Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet 2011 1.22
30 The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am 2010 1.21
31 DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol Autism 2014 1.20
32 Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A 2005 1.17
33 Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry 2013 1.11
34 The developmental transcriptome of the human brain: implications for neurodevelopmental disorders. Curr Opin Neurol 2014 1.04
35 Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome. J Comp Neurol 2009 1.04
36 Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 2010 0.99
37 Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndrome. Am J Med Genet B Neuropsychiatr Genet 2008 0.99
38 Intellectual disability is associated with increased runs of homozygosity in simplex autism. Am J Hum Genet 2013 0.96
39 Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res 2014 0.90
40 Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Hum Mutat 2007 0.89
41 A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. J Clin Neurosci 2009 0.88
42 Another piece of the autism puzzle. Nat Genet 2010 0.86
43 High levels of histidine decarboxylase in the striatum of mice and rats. Neurosci Lett 2011 0.84
44 Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22. Am J Med Genet A 2004 0.84
45 Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. Int J Epidemiol 2014 0.84
46 Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics 2008 0.82
47 Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. Brain Dev 2011 0.82
48 The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. Eur Child Adolesc Psychiatry 2014 0.80
49 [Autism: genetics]. Rev Bras Psiquiatr 2006 0.79
50 A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 2012 0.78
51 A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin. Am J Med Genet A 2010 0.78
52 Progress in cytogenetics: implications for child psychopathology. J Am Acad Child Adolesc Psychiatry 2010 0.78
53 Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23). Am J Med Genet A 2005 0.76
54 The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15. Am J Med Genet A 2009 0.75