Published in BMC Bioinformatics on February 04, 2010
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A (2011) 1.39
Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry (2011) 1.36
Acquired genomic copy number aberrations and survival in adult acute myelogenous leukemia. Blood (2010) 1.23
A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits. BMC Genomics (2012) 1.14
CNV-WebStore: online CNV analysis, storage and interpretation. BMC Bioinformatics (2011) 0.98
CONAN: copy number variation analysis software for genome-wide association studies. BMC Bioinformatics (2010) 0.95
ParseCNV integrative copy number variation association software with quality tracking. Nucleic Acids Res (2013) 0.94
Current analysis platforms and methods for detecting copy number variation. Physiol Genomics (2012) 0.94
Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes. Hum Mol Genet (2010) 0.93
CNVannotator: a comprehensive annotation server for copy number variation in the human genome. PLoS One (2013) 0.93
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
Mosaic trisomy 17: variable clinical and cytogenetic presentation. Am J Med Genet A (2011) 0.87
SG-ADVISER CNV: copy-number variant annotation and interpretation. Genet Med (2014) 0.86
Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol (2013) 0.83
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet (2016) 0.83
The Role of Constitutional Copy Number Variants in Breast Cancer. Microarrays (Basel) (2015) 0.82
A novel SNP analysis method to detect copy number alterations with an unbiased reference signal directly from tumor samples. BMC Med Genomics (2011) 0.79
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med (2016) 0.78
Copy number variation in Thai population. PLoS One (2014) 0.76
The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions. Congenit Heart Dis (2013) 0.75
Integrating genetics and epigenetics in breast cancer: biological insights, experimental, computational methods and therapeutic potential. BMC Syst Biol (2015) 0.75
FocalScan: Scanning for altered genes in cancer based on coordinated DNA and RNA change. Nucleic Acids Res (2016) 0.75
Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A (2015) 0.75
Rare copy number variants in patients with congenital conotruncal heart defects. Birth Defects Res (2017) 0.75
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
The generic genome browser: a building block for a model organism system database. Genome Res (2002) 42.64
Galaxy: a platform for interactive large-scale genome analysis. Genome Res (2005) 35.75
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics (2004) 24.18
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2006) 18.85
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics (2007) 14.25
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
The genetic association database. Nat Genet (2004) 11.29
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
The UCSC Genome Browser Database: update 2009. Nucleic Acids Res (2008) 10.31
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res (2007) 10.08
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
Analysis of array CGH data: from signal ratio to gain and loss of DNA regions. Bioinformatics (2004) 8.29
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Copy-number variations associated with neuropsychiatric conditions. Nature (2008) 6.78
Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data. Bioinformatics (2005) 6.44
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50
A comparison study: applying segmentation to array CGH data for downstream analyses. Bioinformatics (2005) 4.57
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Genomic microarrays in human genetic disease and cancer. Hum Mol Genet (2003) 4.15
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry (2009) 3.56
Copy number variants, diseases and gene expression. Hum Mol Genet (2009) 2.66
ACTuDB, a new database for the integrated analysis of array-CGH and clinical data for tumors. Oncogene (2007) 0.91
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature (2007) 6.10
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med (2008) 3.80
Trouble at rest: how correlation patterns and group differences become distorted after global signal regression. Brain Connect (2012) 3.73
The effect of respiration variations on independent component analysis results of resting state functional connectivity. Hum Brain Mapp (2008) 3.53
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Lancet Neurol (2007) 2.88
Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain Pathol (2008) 2.61
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Putting beta-diversity on the map: broad-scale congruence and coincidence in the extremes. PLoS Biol (2007) 2.17
Microclimate moderates plant responses to macroclimate warming. Proc Natl Acad Sci U S A (2013) 1.93
Crystal structure of the gold nanoparticle [N(C8H17)4][Au25(SCH2CH2Ph)18]. J Am Chem Soc (2008) 1.88
NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet (2012) 1.86
Individual differences in the functional neuroanatomy of inhibitory control. Brain Res (2006) 1.82
Neural correlates of the psychedelic state as determined by fMRI studies with psilocybin. Proc Natl Acad Sci U S A (2012) 1.79
Speech production: Wernicke, Broca and beyond. Brain (2002) 1.78
Synthesis of Pt(dpk)Cl(4) and the reversible hydration to Pt(dpk-O-OH)Cl(3).H-phenCl: X-ray, spectroscopic, and electrochemical characterization. Inorg Chem (2004) 1.71
CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas. J Natl Cancer Inst (2008) 1.71
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum Mol Genet (2003) 1.67
CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system. Oncogene (2003) 1.65
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
Post burn muscle wasting and the effects of treatments. Int J Biochem Cell Biol (2005) 1.62
Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res (2009) 1.58
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med (2013) 1.54
Prefrontal-subcortical dissociations underlying inhibitory control revealed by event-related fMRI. Eur J Neurosci (2004) 1.49
Developing a pictorial Epworth Sleepiness Scale. Thorax (2010) 1.49
A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22). Hum Mol Genet (2003) 1.47
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci (2007) 1.43
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43
Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci (2005) 1.40
Predicting success: patterns of cortical activation and deactivation prior to response inhibition. J Cogn Neurosci (2004) 1.37
Automated recognition of malignancy mentions in biomedical literature. BMC Bioinformatics (2006) 1.36
Hierarchical assembly of homochiral porous solids using coordination and hydrogen bonds. Inorg Chem (2003) 1.34
Multiple mixed-valence behavior in trans,trans-[(tpy)(Cl)2Os(III)(mu-1,3-N3)Os(III)(Cl)2(tpy)]+. An azido bridge from the reaction between trans-[Os(VI)(tpy)(Cl)2(N)]+ and NH3. J Am Chem Soc (2003) 1.33
Removing motion and physiological artifacts from intrinsic BOLD fluctuations using short echo data. Neuroimage (2012) 1.31
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Hum Mutat (2006) 1.31
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans. Genome Res (2008) 1.27
fMRI in the presence of task-correlated breathing variations. Neuroimage (2009) 1.26
Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Res (2002) 1.26
me-PCR: a refined ultrafast algorithm for identifying sequence-defined genomic elements. Bioinformatics (2004) 1.25
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. PLoS One (2013) 1.23
Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. Biol Psychiatry (2007) 1.23
Outcome measures in burn care. Is mortality dead? Burns (2004) 1.20
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet (2013) 1.20
Metallophosphite-induced nucleophilic acylation of alpha,beta-unsaturated amides: facilitated catalysis by a diastereoselective retro [1,4] Brook rearrangement. Angew Chem Int Ed Engl (2005) 1.16
Transarterial chemoembolisation (TACE) using irinotecan-loaded beads for the treatment of unresectable metastases to the liver in patients with colorectal cancer: an interim report. World J Surg Oncol (2009) 1.16
Metallophosphite-catalyzed asymmetric acylation of alpha,beta-unsaturated amides. J Am Chem Soc (2006) 1.15
Identification of cord blood-derived mesenchymal stem/stromal cell populations with distinct growth kinetics, differentiation potentials, and gene expression profiles. Stem Cells Dev (2007) 1.15
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am J Med Genet A (2008) 1.13
An entity tagger for recognizing acquired genomic variations in cancer literature. Bioinformatics (2004) 1.12
Measurement of OEF and absolute CMRO2: MRI-based methods using interleaved and combined hypercapnia and hyperoxia. Neuroimage (2013) 1.11
The effects of centrally administered apelin-13 on food intake, water intake and pituitary hormone release in rats. Biochem Biophys Res Commun (2002) 1.10
Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity. Cancer Res (2012) 1.09
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis (2011) 1.09
Terminating platinum-initiated cation-olefin reactions with simple alkenes. Angew Chem Int Ed Engl (2011) 1.09
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates. Hum Mutat (2005) 1.09
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet (2007) 1.09
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat (2009) 1.08
Cardiopulmonary exercise testing demonstrates maintenance of exercise capacity in patients with hypoxemia and pulmonary arteriovenous malformations. Chest (2014) 1.07
Rotational isomers of N-alkylpyridylporphyrins and their metal complexes. HPLC separation, (1)H NMR and X-ray structural characterization, electrochemistry, and catalysis of O(2)(.-) disproportionation. Inorg Chem (2002) 1.06
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discov Med (2012) 1.06
Ventral striatum activity in response to reward: differences between bipolar I and II disorders. Am J Psychiatry (2013) 1.06
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet (2009) 1.04
Intracranial application of IMRT based radiosurgery to treat multiple or large irregular lesions and verification of infra-red frameless localization system. J Neurooncol (2009) 1.04
Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer Genet (2011) 1.03
Transarterial Chemoembolization of Metastatic Colorectal Carcinoma with Drug-Eluting Beads, Irinotecan (DEBIRI): Multi-Institutional Registry. J Oncol (2009) 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
Proline affects brain function in 22q11DS children with the low activity COMT 158 allele. Neuropsychopharmacology (2008) 1.01
Synthesis, structure, and electronic properties of a dimer of Ru(bpy)2 doubly bridged by methoxide and pyrazolate. Inorg Chem (2008) 1.01
Identification of oscillatory genes in somitogenesis from functional genomic analysis of a human mesenchymal stem cell model. Dev Biol (2007) 1.01
A prevalence study of potentially inappropriate prescribing in Irish long-term care residents. Drugs Aging (2013) 0.99
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A (2014) 0.98
Differential gene expression in mouse sclera during ocular development. Invest Ophthalmol Vis Sci (2006) 0.98
Synthesis and oxidation of d6 tungsten pincer complexes: a complete series of tungsten(II) hydridocarbonyl and halocarbonyl pincer complexes. Dalton Trans (2012) 0.97
Pairwise network mechanisms in the host signaling response to coxsackievirus B3 infection. Proc Natl Acad Sci U S A (2010) 0.97
The thalamus and brainstem act as key hubs in alterations of human brain network connectivity induced by mild propofol sedation. J Neurosci (2013) 0.96
Twelve-week efficacy and safety study of mometasone furoate/formoterol 200/10 microg and 400/10 microg combination treatments in patients with persistent asthma previously receiving high-dose inhaled corticosteroids. Allergy Asthma Proc (2010) 0.96
Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Mol Vis (2005) 0.96
Genome-wide analysis of interferon regulatory factor I binding in primary human monocytes. Gene (2011) 0.96
Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6. Proc Natl Acad Sci U S A (2002) 0.96
A role for arcuate cocaine and amphetamine-regulated transcript in hyperphagia, thermogenesis, and cold adaptation. FASEB J (2003) 0.95
Genomic annotation of the meningioma tumor suppressor locus on chromosome 1p34. Oncogene (2004) 0.95
Region-specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform. Genome Res (2005) 0.95
Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC Bioinformatics (2011) 0.95
Cyclical expression of the Notch/Wnt regulator Nrarp requires modulation by Dll3 in somitogenesis. Dev Biol (2009) 0.94
Prefrontal and midline interactions mediating behavioural control. Eur J Neurosci (2009) 0.93
Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. Mol Vis (2005) 0.93
Outcome measurement after vagal nerve stimulation therapy: proposal of a new classification. Epilepsia (2007) 0.93