Published in Bioinformatics on August 31, 2012
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives. BMC Bioinformatics (2013) 2.07
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Comparative study of exome copy number variation estimation tools using array comparative genomic hybridization as control. Biomed Res Int (2013) 1.61
Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis. J Mol Diagn (2016) 1.49
DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet (2013) 1.44
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet (2013) 1.39
Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet (2014) 1.32
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia. J Med Genet (2012) 1.29
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain (2013) 1.03
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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet (2014) 1.00
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Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2013) 0.97
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. J Med Genet (2013) 0.96
CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing. PLoS Comput Biol (2016) 0.95
LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. J Allergy Clin Immunol (2012) 0.93
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet (2015) 0.93
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Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. Bonekey Rep (2013) 0.87
Molecular findings from 537 individuals with inherited retinal disease. J Med Genet (2016) 0.87
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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. Am J Hum Genet (2016) 0.85
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet (2015) 0.85
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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
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Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia. J Neurol Neurosurg Psychiatry (2013) 0.83
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Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica (2016) 0.82
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
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism. PLoS One (2015) 0.80
Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar. Circ Cardiovasc Genet (2013) 0.80
Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS One (2014) 0.80
Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN. Wellcome Open Res (2016) 0.80
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Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood. Neurol Genet (2016) 0.80
Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Genom Data (2014) 0.79
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data. Bioinformatics (2015) 0.78
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Assessing the reproducibility of exome copy number variations predictions. Genome Med (2016) 0.77
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. Am J Hum Genet (2016) 0.77
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Reproducibility of Illumina platform deep sequencing errors allows accurate determination of DNA barcodes in cells. BMC Bioinformatics (2016) 0.77
Copy number variation analysis based on AluScan sequences. J Clin Bioinforma (2014) 0.77
Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation. Sci Rep (2015) 0.76
Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11. Appl Transl Genom (2015) 0.76
Cost effective assay choice for rare disease study designs. Orphanet J Rare Dis (2015) 0.76
Whole-exome sequencing study reveals common copy number variants in protocadherin genes associated with childhood obesity in Koreans. Int J Obes (Lond) (2017) 0.75
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Sci Rep (2017) 0.75
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment. PeerJ (2017) 0.75
Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients. Mov Disord (2016) 0.75
Explorations to improve the completeness of exome sequencing. BMC Med Genomics (2016) 0.75
A Sparse Model Based Detection of Copy Number Variations From Exome Sequencing Data. IEEE Trans Biomed Eng (2016) 0.75
Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype. Hum Genome Var (2017) 0.75
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. J Clin Immunol (2016) 0.75
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Am J Hum Genet (2016) 0.75
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population. Sci Rep (2017) 0.75
Validation of copy number variation analysis for next-generation sequencing diagnostics. Eur J Hum Genet (2017) 0.75
Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq. Bioinformatics (2016) 0.75
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. Am J Hum Genet (2017) 0.75
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response. Oncogene (2016) 0.75
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Am J Hum Genet (2017) 0.75
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability. Mol Psychiatry (2015) 0.75
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2. Hum Genet (2016) 0.75
A recurrent mutation in bone morphogenetic proteins-2-inducible kinase gene is associated with developmental dysplasia of the hip. Exp Ther Med (2017) 0.75
Recessively Inherited Lrba Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes (2017) 0.75
Detection of structural mosaicism from targeted and whole-genome sequencing data. Genome Res (2017) 0.75
Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumour syndrome. Endocr Connect (2017) 0.75
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Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics (2009) 15.08
Computational methods for discovering structural variation with next-generation sequencing. Nat Methods (2009) 7.20
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics (2011) 5.45
CNV-seq, a new method to detect copy number variation using high-throughput sequencing. BMC Bioinformatics (2009) 5.14
Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med (2009) 4.52
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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05
SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data. Bioinformatics (2010) 2.63
Detection of structural variants and indels within exome data. Nat Methods (2011) 2.27
Modeling read counts for CNV detection in exome sequencing data. Stat Appl Genet Mol Biol (2011) 1.55
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Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
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A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet (2005) 5.81
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Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet (2004) 5.43
Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci (2006) 4.87
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Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet (2010) 4.42
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01
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PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell (2009) 3.17
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