Published in Hum Mutat on February 01, 2008
The biology of infertility: research advances and clinical challenges. Nat Med (2008) 4.62
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest (2014) 3.15
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med (2009) 2.71
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet (2008) 2.17
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A (2011) 1.71
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation (2012) 1.44
DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet (2013) 1.44
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med (2011) 1.42
The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men. Dev Dyn (2008) 1.36
Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry. Proc Natl Acad Sci U S A (2010) 1.33
Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child (2014) 1.26
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet (2013) 1.24
Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol (2011) 1.22
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet (2013) 1.21
Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr (2009) 1.21
Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet (2009) 1.19
The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc (2011) 1.16
Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr (2012) 1.14
Diagnosis and management of primary ciliary dyskinesia. Cilia (2015) 1.14
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med (2015) 1.09
Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet (2010) 1.03
Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J Pediatr (2011) 1.03
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Hum Mol Genet (2010) 1.02
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl (2013) 1.00
Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy. PLoS Genet (2009) 0.93
Ex vivo method for high resolution imaging of cilia motility in rodent airway epithelia. J Vis Exp (2013) 0.92
Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia. Biol Reprod (2011) 0.89
Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid. PLoS One (2014) 0.86
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep (2015) 0.86
How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease. Mech Dev (2012) 0.85
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet (2015) 0.84
Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists. Pediatr Allergy Immunol Pulmonol (2011) 0.84
Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. Nat Commun (2014) 0.84
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet (2014) 0.83
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) (2015) 0.83
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Am J Respir Cell Mol Biol (2016) 0.80
Human airway ciliary dynamics. Am J Physiol Lung Cell Mol Physiol (2012) 0.80
Transcriptional control of left-right patterning in cardiac development. Pediatr Cardiol (2010) 0.78
Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis. BMC Pulm Med (2015) 0.78
In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases. J Appl Genet (2010) 0.78
Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives. J Clin Med (2014) 0.78
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet (2016) 0.77
Mutation analysis in patients with total sperm immotility. J Assist Reprod Genet (2015) 0.77
A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis. BMC Res Notes (2015) 0.77
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet (2016) 0.76
The evolving spectrum of ciliopathies and respiratory disease. Curr Opin Pediatr (2016) 0.75
Chromothripsis: Basis of a Concurrent Unusual Association between Myelodysplastic Syndrome and Primary Ciliary Dyskinesia. Case Rep Hematol (2014) 0.75
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med (2014) 0.75
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. Front Pediatr (2017) 0.75
Prevalence of Primary Ciliary Dyskinesia in consecutive referrals of suspect cases and the Transmission Electron Microscopy detection rate: A systematic review and meta-analysis. Pediatr Res (2016) 0.75
Clinical value of measurement of pulmonary radioaerosol mucociliary clearance in the work up of primary ciliary dyskinesia. EJNMMI Res (2015) 0.75
Exome Sequence Analysis of 14 Families With High Myopia. Invest Ophthalmol Vis Sci (2017) 0.75
The determination factors of left-right asymmetry disorders- a short review. Clujul Med (2017) 0.75
Primary ciliary dyskinesia: mechanisms and management. Appl Clin Genet (2017) 0.75
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Landscape of transcription in human cells. Nature (2012) 20.18
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
GENCODE: producing a reference annotation for ENCODE. Genome Biol (2006) 15.08
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet (2008) 8.78
When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol (2007) 8.28
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature (2002) 5.38
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet (2005) 4.79
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
Human chromosome 21 gene expression atlas in the mouse. Nature (2002) 4.36
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Res (2007) 4.33
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation (2007) 4.17
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells (2003) 4.11
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. J Clin Invest (2008) 3.98
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet (2007) 3.98
Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet (2005) 3.97
The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci U S A (2007) 3.93
Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res (2005) 3.89
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Res (2007) 3.82
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs). Science (2003) 3.77
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proc Natl Acad Sci U S A (2003) 3.73
Pollen immunotherapy reduces the development of asthma in children with seasonal rhinoconjunctivitis (the PAT-study). J Allergy Clin Immunol (2002) 3.71
Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol (2011) 3.66
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet (2010) 3.60
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature (2008) 3.28
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet (2011) 3.10
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet (2009) 3.01
The Runx3 transcription factor regulates development and survival of TrkC dorsal root ganglia neurons. EMBO J (2002) 2.99
Genetic defects in ciliary structure and function. Annu Rev Physiol (2007) 2.94
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Perennial allergen sensitisation early in life and chronic asthma in children: a birth cohort study. Lancet (2006) 2.81
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Gene expression levels assessed by oligonucleotide microarray analysis and quantitative real-time RT-PCR -- how well do they correlate? BMC Genomics (2005) 2.76
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Passive and active DNA methylation and the interplay with genetic variation in gene regulation. Elife (2013) 2.70
Structured RNAs in the ENCODE selected regions of the human genome. Genome Res (2007) 2.69
The natural course of atopic dermatitis from birth to age 7 years and the association with asthma. J Allergy Clin Immunol (2004) 2.69
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet (2004) 2.63
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet (2007) 2.62
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Res (2004) 2.58
Montelukast, compared with fluticasone, for control of asthma among 6- to 14-year-old patients with mild asthma: the MOSAIC study. Pediatrics (2005) 2.56
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc Natl Acad Sci U S A (2005) 2.56
Viral agents of acute gastroenteritis in German children: prevalence and molecular diversity. J Med Virol (2003) 2.56
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Oral peanut immunotherapy in children with peanut anaphylaxis. J Allergy Clin Immunol (2010) 2.50
Triggers and treatment of anaphylaxis: an analysis of 4,000 cases from Germany, Austria and Switzerland. Dtsch Arztebl Int (2014) 2.47
Ageing-related chromatin defects through loss of the NURD complex. Nat Cell Biol (2009) 2.40
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
Early identification of atopy in the prediction of persistent asthma in children. Lancet (2008) 2.27
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med (2005) 2.25
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet (2010) 2.25