Published in Hum Mol Genet on June 27, 2013
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
1q21.1 Microduplication expression in adults. Genet Med (2012) 1.25
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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The 3q29 deletion confers >40-fold increase in risk for schizophrenia. Mol Psychiatry (2015) 0.79
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Individualizing recurrence risks for severe mental illness: epidemiologic and molecular genetic approaches. Schizophr Bull (2013) 0.76
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Eur J Hum Genet (2016) 0.75
Integrative approach for inference of gene regulatory networks using lasso-based random featuring and application to psychiatric disorders. BMC Med Genomics (2016) 0.75
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De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry (2011) 4.91
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Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet (2008) 4.78
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52
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De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet (2012) 3.49
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Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet (2008) 2.76
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet (2010) 2.68
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
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Diagnostic shifts during the decade following first admission for psychosis. Am J Psychiatry (2011) 2.24
Inference of unexpected genetic relatedness among individuals in HapMap Phase III. Am J Hum Genet (2010) 2.16
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet (2006) 2.14
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Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet (2012) 1.47
Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet (2011) 1.46
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet (2012) 1.44
Premature death in adults with 22q11.2 deletion syndrome. J Med Genet (2009) 1.42
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res (2010) 1.30
What is a meaningful result? Disclosing the results of genomic research in autism to research participants. Eur J Hum Genet (2010) 1.26
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Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. Biol Psychiatry (2011) 1.25
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med (2011) 1.22
Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A (2006) 1.16
Chromosomal microarray impacts clinical management. Clin Genet (2013) 1.13
Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet (2011) 1.13
Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease. Int J Cardiol (2008) 1.12
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet (2013) 1.11
Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age. Schizophr Bull (2012) 1.08
Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr Res (2012) 1.08
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Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome. J Intellect Disabil Res (2011) 1.01
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet (2011) 1.00
Evaluating genetic counseling for individuals with schizophrenia in the molecular age. Schizophr Bull (2012) 0.96
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. BMC Med Genet (2011) 0.95
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A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet (2011) 0.94
Parents' perspectives on participating in genetic research in autism. J Autism Dev Disord (2013) 0.91
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Apc1 is required for maintenance of local brain organizers and dorsal midbrain survival. Dev Biol (2009) 0.85
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New Ontario familial breast cancer registry to facilitate genetic and epidemiologic studies. Can Fam Physician (1997) 0.80
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Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
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Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
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Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci U S A (2002) 5.18
Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet (2007) 5.04
Structural variants: changing the landscape of chromosomes and design of disease studies. Hum Mol Genet (2006) 4.60
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. Nat Genet (2009) 4.52
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Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature (2012) 4.13
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Mutations in SUFU predispose to medulloblastoma. Nat Genet (2002) 3.78
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet (2010) 3.73
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Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet (2010) 3.49
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
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Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A (2005) 3.13
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Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet (2008) 2.84
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