Published in Nat Genet on July 08, 2012
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet (2012) 5.48
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
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From mouse to human: evolutionary genomics analysis of human orthologs of essential genes. PLoS Genet (2013) 1.70
Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet (2014) 1.70
Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. J Am Coll Cardiol (2014) 1.65
Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. Blood (2014) 1.63
Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing. Arthritis Rheumatol (2016) 1.41
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Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes. Am J Hum Genet (2015) 1.40
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The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. Am J Hum Genet (2013) 1.25
Progress in cystic fibrosis and the CF Therapeutics Development Network. Thorax (2012) 1.12
Telomerase mutations in smokers with severe emphysema. J Clin Invest (2014) 1.11
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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet (2014) 1.03
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. Nat Commun (2015) 1.01
Pharmacogenomics of adverse drug reactions. Genome Med (2013) 1.00
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. Gastroenterology (2014) 0.99
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QPLOT: a quality assessment tool for next generation sequencing data. Biomed Res Int (2013) 0.95
Identifying rare variants associated with complex traits via sequencing. Curr Protoc Hum Genet (2013) 0.95
Challenges in elucidating the genetics of diabetic retinopathy. JAMA Ophthalmol (2014) 0.93
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A variational Bayes discrete mixture test for rare variant association. Genet Epidemiol (2014) 0.92
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A new system identification approach to identify genetic variants in sequencing studies for a binary phenotype. Hum Hered (2014) 0.87
High-throughput sequencing and rare genetic diseases. Mol Syndromol (2012) 0.85
Small Sample Kernel Association Tests for Human Genetic and Microbiome Association Studies. Genet Epidemiol (2015) 0.83
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. Am J Hum Genet (2016) 0.83
Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum. J Invest Dermatol (2014) 0.81
Genome measures used for quality control are dependent on gene function and ancestry. Bioinformatics (2014) 0.81
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. Hum Mol Genet (2014) 0.81
The next generation of complex lung genetic studies. Am J Respir Crit Care Med (2012) 0.80
The effect of phenotypic outliers and non-normality on rare-variant association testing. Eur J Hum Genet (2016) 0.79
V-akt murine thymoma viral oncogene homolog 3 (AKT3) contributes to poor disease outcome in humans and mice with pneumococcal meningitis. Acta Neuropathol Commun (2016) 0.79
Extreme Trait Whole Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction. Am J Respir Crit Care Med (2017) 0.78
SVSI: fast and powerful set-valued system identification approach to identifying rare variants in sequencing studies for ordered categorical traits. Ann Hum Genet (2015) 0.78
Exome sequencing of extreme clopidogrel response phenotypes identifies B4GALT2 as a determinant of on-treatment platelet reactivity. Clin Pharmacol Ther (2016) 0.78
RNA-Seq using two populations reveals genes and alleles controlling wood traits and growth in Eucalyptus nitens. PLoS One (2014) 0.77
The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters? Front Genet (2013) 0.77
Role of Exchange Protein Activated by cAMP 1 in Regulating Rates of Microtubule Formation in Cystic Fibrosis Epithelial Cells. Am J Respir Cell Mol Biol (2015) 0.77
T2R38 genotype is correlated with sinonasal quality of life in homozygous ΔF508 cystic fibrosis patients. Int Forum Allergy Rhinol (2015) 0.77
Efficient simulation of epistatic interactions in case-parent trios. Hum Hered (2013) 0.77
Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36. Int J Mol Epidemiol Genet (2013) 0.77
Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2016) 0.76
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy. Am J Hum Genet (2016) 0.76
Discovery of rare variants for complex phenotypes. Hum Genet (2016) 0.76
Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. J Thorac Oncol (2016) 0.76
The Effect of Strict Segregation on Pseudomonas aeruginosa in Cystic Fibrosis Patients. PLoS One (2016) 0.75
The impact of rare and low-frequency genetic variants in common disease. Genome Biol (2017) 0.75
Identification of genetic variants associated with susceptibility to West Nile virus neuroinvasive disease. Genes Immun (2016) 0.75
Genetics of Common Antipsychotic-Induced Adverse Effects. Mol Neuropsychiatry (2016) 0.75
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The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. Genet Med (2015) 0.75
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Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy. Hum Genet (2015) 0.75
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. Clin Endocrinol (Oxf) (2016) 0.75
Harnessing Neutrophil Survival Mechanisms during Chronic Infection by Pseudomonas aeruginosa: Novel Therapeutic Targets to Dampen Inflammation in Cystic Fibrosis. Front Cell Infect Microbiol (2017) 0.75
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Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. PLoS One (2017) 0.75
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
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Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients. J Cyst Fibros (2003) 2.82
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Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol (2011) 2.32
Autophagy plays an essential role in the clearance of Pseudomonas aeruginosa by alveolar macrophages. J Cell Sci (2012) 1.57
Early anti-pseudomonal acquisition in young patients with cystic fibrosis: rationale and design of the EPIC clinical trial and observational study'. Contemp Clin Trials (2009) 1.53
Extremes of unexplained variation as a phenotype: an efficient approach for genome-wide association studies of cardiovascular disease. Circ Cardiovasc Genet (2010) 1.33
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients. Respir Res (2010) 1.20
Evaluating the "Leeds criteria" for Pseudomonas aeruginosa infection in a cystic fibrosis centre. Eur Respir J (2006) 1.17
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Automated high-throughput sex-typing assay. Biotechniques (2004) 1.06
Autophagy: a core cellular process with emerging links to pulmonary disease. Am J Respir Crit Care Med (2011) 1.00
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science (2005) 12.02
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
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Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet (2006) 9.04
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med (2005) 8.77
The genome of the kinetoplastid parasite, Leishmania major. Science (2005) 8.64
Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet (2011) 8.57
The genome sequence of Trypanosoma cruzi, etiologic agent of Chagas disease. Science (2005) 7.61
Mapping complex disease loci in whole-genome association studies. Nature (2004) 7.31
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11
Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet (2004) 6.99
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36
Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genet (2009) 6.36
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Acetylation of metabolic enzymes coordinates carbon source utilization and metabolic flux. Science (2010) 6.04
Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med (2005) 5.51
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Clinical findings in 111 cases of influenza A (H7N9) virus infection. N Engl J Med (2013) 5.38
Mucus clearance and lung function in cystic fibrosis with hypertonic saline. N Engl J Med (2006) 5.37
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet (2003) 5.30
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Complications of colonoscopy in an integrated health care delivery system. Ann Intern Med (2006) 5.10
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Integrated molecular genetic profiling of pediatric high-grade gliomas reveals key differences with the adult disease. J Clin Oncol (2010) 4.94
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet (2004) 4.90
Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis. Pediatr Pulmonol (2002) 4.85
Theoretical and experimental comparisons of gene expression indexes for oligonucleotide arrays. Bioinformatics (2002) 4.85
Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res (2005) 4.81
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Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Proton pump inhibitor and histamine 2 receptor antagonist use and vitamin B12 deficiency. JAMA (2013) 4.67
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
Impact of endoscopic surveillance on mortality from Barrett's esophagus-associated esophageal adenocarcinomas. Gastroenterology (2013) 4.43
Completing the map of human genetic variation. Nature (2007) 4.38
Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med (2003) 4.33
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Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes (2008) 4.20
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Probable limited person-to-person transmission of highly pathogenic avian influenza A (H5N1) virus in China. Lancet (2008) 4.17
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Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
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A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood (2008) 4.02
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet (2006) 3.94
Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med (2012) 3.94
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Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93
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