Published in Am J Hum Genet on October 05, 2012
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Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. Mol Psychiatry (2013) 0.93
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Genetic evaluation of short stature. J Clin Endocrinol Metab (2014) 0.90
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. J Hum Genet (2015) 0.89
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Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genet Test Mol Biomarkers (2014) 0.89
Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends Cardiovasc Med (2013) 0.88
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genet (2016) 0.87
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Novel bioinformatic developments for exome sequencing. Hum Genet (2016) 0.86
Somatic copy number alterations detected by ultra-deep targeted sequencing predict prognosis in oral cavity squamous cell carcinoma. Oncotarget (2015) 0.86
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. Am J Hum Genet (2017) 0.86
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot. PLoS One (2014) 0.84
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet (2016) 0.84
Targeted exon sequencing in Usher syndrome type I. Invest Ophthalmol Vis Sci (2014) 0.84
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. Biomed Res Int (2012) 0.84
Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma. Endocr Connect (2013) 0.84
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet (2016) 0.83
Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach. Hum Genome Var (2016) 0.83
Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations. Mol Psychiatry (2016) 0.82
Allele-specific copy-number discovery from whole-genome and whole-exome sequencing. Nucleic Acids Res (2015) 0.82
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Hum Mutat (2015) 0.82
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cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data. BMC Genomics (2016) 0.81
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN. Wellcome Open Res (2016) 0.80
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. PLoS One (2015) 0.80
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Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med (2016) 0.78
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A New Method for Detecting Associations with Rare Copy-Number Variants. PLoS Genet (2015) 0.78
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet (2016) 0.78
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data. Bioinformatics (2015) 0.78
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity. Sci Rep (2015) 0.78
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet (2016) 0.78
Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PLoS One (2015) 0.78
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Sci Rep (2016) 0.77
Assessing the reproducibility of exome copy number variations predictions. Genome Med (2016) 0.77
Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease. Cold Spring Harb Mol Case Stud (2016) 0.77
GROM-RD: resolving genomic biases to improve read depth detection of copy number variants. PeerJ (2015) 0.76
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res (2016) 0.76
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine. PLoS One (2015) 0.76
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors. Acta Neuropathol (2016) 0.76
Selected rapporteur summaries from the XX World Congress of Psychiatric Genetics, Hamburg, Germany, October 14-18, 2012. Am J Med Genet B Neuropsychiatr Genet (2013) 0.76
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer (2017) 0.75
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1. J Hum Genet (2017) 0.75
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics (2017) 0.75
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome. BMC Endocr Disord (2016) 0.75
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. Cold Spring Harb Mol Case Stud (2016) 0.75
Computational characterisation of cancer molecular profiles derived using next generation sequencing. Contemp Oncol (Pozn) (2015) 0.75
Rare deleterious mutations are associated with disease in bipolar disorder families. Mol Psychiatry (2016) 0.75
A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing Data. IEEE Trans Biomed Eng (2016) 0.75
Whole exome association of rare deletions in multiplex oral cleft families. Genet Epidemiol (2016) 0.75
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Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature (2008) 20.31
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
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Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet (2006) 11.14
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries. Genome Biol (2011) 9.18
Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res (2009) 7.42
Performance comparison of exome DNA sequencing technologies. Nat Biotechnol (2011) 7.11
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics (2011) 5.45
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry (2011) 4.91
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51
Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet (2010) 3.50
Challenges of sequencing human genomes. Brief Bioinform (2010) 2.39
Detection of structural variants and indels within exome data. Nat Methods (2011) 2.27
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Mol Psychiatry (2012) 2.09
The clinical context of copy number variation in the human genome. Expert Rev Mol Med (2010) 2.00
Modeling read counts for CNV detection in exome sequencing data. Stat Appl Genet Mol Biol (2011) 1.55
Retracted Copy number variations and cancer susceptibility. Curr Opin Oncol (2010) 1.24
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Finding the missing heritability of complex diseases. Nature (2009) 67.95
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
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Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature (2009) 33.26
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
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New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
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Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49
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Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA (2010) 9.52
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Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
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