Published in Am J Respir Crit Care Med on March 15, 2014
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Accuracy of diagnostic testing in primary ciliary dyskinesia. Eur Respir J (2015) 1.52
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Pharmacological Rescue of Conditionally Reprogrammed Cystic Fibrosis Bronchial Epithelial Cells. Am J Respir Cell Mol Biol (2016) 0.76
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Novel roles for the radial spoke head protein 9 in neural and neurosensory cilia. Sci Rep (2016) 0.75
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Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. Mol Med Rep (2016) 0.75
Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology. J Ovarian Res (2016) 0.75
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. Am J Hum Genet (2016) 0.75
Airway Epithelial Cell Cilia and Obstructive Lung Disease. Cells (2016) 0.75
Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives. BMC Proc (2016) 0.75
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Well-differentiated human airway epithelial cell cultures. Methods Mol Med (2005) 4.66
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A proteomic analysis of human cilia: identification of novel components. Mol Cell Proteomics (2002) 3.23
Genetic defects in ciliary structure and function. Annu Rev Physiol (2007) 2.94
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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet (1999) 2.77
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The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet (2010) 2.25
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A (2002) 2.21
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet (2008) 2.17
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet (2009) 2.07
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet (2012) 2.04
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet (2012) 1.99
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet (2013) 1.90
Radial spoke proteins of Chlamydomonas flagella. J Cell Sci (2006) 1.90
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med (2006) 1.80
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet (2012) 1.78
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet (2009) 1.65
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.60
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Respir J (2009) 1.58
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.53
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet (2011) 1.49
Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc (2013) 1.49
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.48
Conditionally reprogrammed cells represent a stem-like state of adult epithelial cells. Proc Natl Acad Sci U S A (2012) 1.46
DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet (2013) 1.44
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet (2013) 1.43
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat (2013) 1.31
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet (2013) 1.24
Increased nasal epithelial ciliary beat frequency associated with lifestyle tobacco smoke exposure. Inhal Toxicol (2009) 1.20
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet (2013) 1.19
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet (2013) 1.17
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet (2013) 1.17
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One (2013) 1.12
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet (2013) 1.08
Cilia, KIF3 molecular motor and nodal flow. Curr Opin Cell Biol (2012) 0.94
Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia. Gene (2007) 0.90
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat (2013) 0.89
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
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
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
Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11
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
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet (2006) 9.04
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
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Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78
Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med (2005) 8.77
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Mapping complex disease loci in whole-genome association studies. Nature (2004) 7.31
Basal cells as stem cells of the mouse trachea and human airway epithelium. Proc Natl Acad Sci U S A (2009) 7.24
The evolution of gene expression levels in mammalian organs. Nature (2011) 7.16
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
A three-dimensional model of the yeast genome. Nature (2010) 7.01
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
Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med (2011) 6.74
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Illumina sequencing library preparation for highly multiplexed target capture and sequencing. Cold Spring Harb Protoc (2010) 6.39
Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36
Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med (2010) 6.23
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. Genome Biol (2010) 6.07
Linezolid for treatment of chronic extensively drug-resistant tuberculosis. N Engl J Med (2012) 5.87
An official ATS clinical practice guideline: interpretation of exhaled nitric oxide levels (FENO) for clinical applications. Am J Respir Crit Care Med (2011) 5.53
Open versus laparoscopic surgery for mid or low rectal cancer after neoadjuvant chemoradiotherapy (COREAN trial): short-term outcomes of an open-label randomised controlled trial. Lancet Oncol (2010) 5.51
Deep proteome and transcriptome mapping of a human cancer cell line. Mol Syst Biol (2011) 5.48
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
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Risk of pediatric celiac disease according to HLA haplotype and country. N Engl J Med (2014) 5.44
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet (2003) 5.30
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet (2003) 5.24
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 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
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Well-differentiated human airway epithelial cell cultures. Methods Mol Med (2005) 4.66
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol (2012) 4.51
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
Completing the map of human genetic variation. Nature (2007) 4.38
Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Am J Respir Crit Care Med (2008) 4.33
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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 4.21
The beginning of the end for microarrays? Nat Methods (2008) 4.19
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation (2007) 4.17
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An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children. Am J Respir Crit Care Med (2007) 4.10
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99