Published in BMC Med Genet on November 25, 2011
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The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum Genet (2013) 1.15
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet (2013) 1.14
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry (2011) 4.29
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
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Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry (2009) 2.29
Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry (2010) 2.11
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Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry (2011) 1.94
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet (2010) 1.64
Changes in NMDA receptor subunits and interacting PSD proteins in dorsolateral prefrontal and anterior cingulate cortex indicate abnormal regional expression in schizophrenia. Mol Psychiatry (2006) 1.62
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet (2009) 1.58
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet (2005) 1.56
Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil (2008) 1.49
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The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperactivity disorder (ADHD): Findings from a family-based association test (FBAT) analysis. Behav Brain Funct (2008) 1.27
Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet (2004) 1.25
Evidence for abnormal forward trafficking of AMPA receptors in frontal cortex of elderly patients with schizophrenia. Neuropsychopharmacology (2010) 1.19
Novel linkage to chromosome 20p using latent classes of psychotic illness in 270 Irish high-density families. Biol Psychiatry (2008) 1.13
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry (2009) 1.11
Correlation of transcriptome profile with electrical activity in temporal lobe epilepsy. Neurobiol Dis (2006) 1.08
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Gene expression of PSD95 in prefrontal cortex and hippocampus in schizophrenia. Neuroreport (2000) 0.98
Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity. Am J Hum Genet (1999) 0.98
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Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. Psychiatr Genet (2010) 0.94
Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder. Am J Med Genet B Neuropsychiatr Genet (2011) 0.93
Glutamatergic gene expression is specifically reduced in thalamocortical projecting relay neurons in schizophrenia. Biol Psychiatry (2011) 0.91
Association of syndromic mental retardation and autism with 22q11.2 duplication. Neuropediatrics (2009) 0.91
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. Hum Mol Genet (2009) 0.88
Evidence of association of serotonin transporter gene polymorphisms with schizophrenia in a South Indian population. J Hum Genet (2009) 0.87
Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. Am J Med Genet A (2011) 0.84
Genome-wide linkage scan, fine mapping, and haplotype analysis in a large, inbred, Arab Israeli pedigree suggest a schizophrenia susceptibility locus on chromosome 20p13. Am J Med Genet B Neuropsychiatr Genet (2008) 0.83
Upregulated expression of postsynaptic density-93 and N-methyl-D-aspartate receptors subunits 2B mRNA in temporal lobe tissue of epilepsy. Biochem Biophys Res Commun (2007) 0.82
Nucleotide variation in central nervous system genes among male suicide attempters. Am J Med Genet B Neuropsychiatr Genet (2010) 0.80
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol (2010) 13.99
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation. PLoS Biol (2007) 5.48
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
Hematopoietic fingerprints: an expression database of stem cells and their progeny. Cell Stem Cell (2007) 4.06
Molecular signatures of proliferation and quiescence in hematopoietic stem cells. PLoS Biol (2004) 3.94
Inhibition of SIRT1 reactivates silenced cancer genes without loss of promoter DNA hypermethylation. PLoS Genet (2006) 3.54
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis. Science (2011) 3.49
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell (2011) 3.27
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev (2007) 3.08
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A (2006) 2.86
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet (2007) 2.60
Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics (2010) 2.45
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet (2011) 2.38
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Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates. Hum Gene Ther (2004) 2.32
Disruption of the circadian clock within the cardiomyocyte influences myocardial contractile function, metabolism, and gene expression. Am J Physiol Heart Circ Physiol (2007) 2.17
Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One (2010) 2.14
Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet (2009) 2.00
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet (2009) 1.98
Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways. Blood (2006) 1.98
The circadian clock within the cardiomyocyte is essential for responsiveness of the heart to fatty acids. J Biol Chem (2006) 1.94
Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J Neurosci (2003) 1.93
Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1. Blood (2002) 1.92
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
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A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn (2009) 1.78
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet (2013) 1.76
Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons. Hum Gene Ther (2002) 1.69
Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans. J Infect Dis (2011) 1.67
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res (2008) 1.66
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med (2006) 1.63
Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions. Genome Res (2009) 1.52
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet (2007) 1.52
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A (2008) 1.51
Evidence for diversity in transcriptional profiles of single hematopoietic stem cells. PLoS Genet (2006) 1.51
Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy. Mol Ther (2007) 1.50
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol (2005) 1.46
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet (2006) 1.45
The intrinsic circadian clock within the cardiomyocyte. Am J Physiol Heart Circ Physiol (2005) 1.42
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet (2003) 1.42
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet (2010) 1.42
Copy number and SNP arrays in clinical diagnostics. Annu Rev Genomics Hum Genet (2011) 1.41
Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates. Mol Ther (2008) 1.40
Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors. Mol Ther (2005) 1.40
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res (2011) 1.37
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Integrative genomic analysis of the human immune response to influenza vaccination. Elife (2013) 1.37
Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One (2010) 1.37
Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc Natl Acad Sci U S A (2005) 1.36
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A (2005) 1.35
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat (2008) 1.35
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med (2012) 1.33
Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector. Hum Gene Ther (2005) 1.32
Intercellular adhesion molecule-1 expression is required on multiple cell types for the development of experimental autoimmune encephalomyelitis. J Immunol (2007) 1.31
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Microarray analysis for constitutional cytogenetic abnormalities. Genet Med (2007) 1.30