Published in Nat Genet on February 14, 2010
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell (2012) 4.81
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Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet (2010) 3.39
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet (2010) 2.57
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk. Nat Genet (2010) 2.57
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet (2011) 2.46
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet (2011) 1.94
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RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders. PLoS One (2011) 1.60
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Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet (2012) 1.35
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet (2011) 1.35
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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Eur J Hum Genet (2014) 1.16
Understanding variable expressivity in microdeletion syndromes. Nat Genet (2010) 1.16
Deconstructing oppositional defiant disorder: clinic-based evidence for an anger/irritability phenotype. J Am Acad Child Adolesc Psychiatry (2012) 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
Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci (2012) 1.13
Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis (2011) 1.11
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet (2010) 1.06
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J Med Genet (2010) 1.06
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Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease. PLoS One (2011) 1.02
Discovery of variants unmasked by hemizygous deletions. Eur J Hum Genet (2012) 1.02
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
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. Eur J Hum Genet (2012) 1.00
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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. Hum Mol Genet (2013) 0.99
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. J Neurodev Disord (2011) 0.99
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Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol (2012) 0.98
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. J Med Genet (2011) 0.98
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet (2010) 0.97
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Mol Cytogenet (2012) 0.96
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children. Orphanet J Rare Dis (2011) 0.96
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. Eur J Hum Genet (2011) 0.96
Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med (2011) 0.95
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VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. Mol Syndromol (2013) 0.94
The 15q11.2 BP1-BP2 microdeletion syndrome: a review. Int J Mol Sci (2015) 0.93
5q11.2 deletion in a patient with tracheal agenesis. Eur J Hum Genet (2010) 0.93
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. Eur J Hum Genet (2012) 0.93
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability. Mol Cytogenet (2014) 0.93
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Genet Med (2012) 0.92
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet (2015) 0.90
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. PLoS Genet (2012) 0.90
New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev (2010) 0.89
Autism spectrum disorder and epilepsy: Disorders with a shared biology. Epilepsy Behav (2015) 0.88
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics (2014) 0.88
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay. Case Rep Genet (2012) 0.88
Distribution of disease-associated copy number variants across distinct disorders of cognitive development. J Am Acad Child Adolesc Psychiatry (2013) 0.88
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification. Eur J Hum Genet (2013) 0.87
Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders. Mol Autism (2013) 0.87
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. PLoS One (2011) 0.87
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. Mol Syndromol (2011) 0.87
The impact of genomics on pediatric research and medicine. Pediatrics (2012) 0.87
High-resolution copy number variation analysis of schizophrenia in Japan. Mol Psychiatry (2016) 0.87
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Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
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New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet (2008) 10.19
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