Published in Nat Genet on May 13, 2012
The zebrafish reference genome sequence and its relationship to the human genome. Nature (2013) 8.52
Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatr Res (2013) 2.17
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med (2013) 2.09
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
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
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
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
Coordinated genomic control of ciliogenesis and cell movement by RFX2. Elife (2014) 1.20
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
Primary ciliary dyskinesia, an orphan disease. Eur J Pediatr (2012) 1.14
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med (2014) 1.14
Diagnosis and management of primary ciliary dyskinesia. Cilia (2015) 1.14
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLoS One (2013) 1.12
Recent advances in primary ciliary dyskinesia genetics. J Med Genet (2014) 1.10
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet (2013) 1.08
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One (2013) 1.04
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis (2014) 1.03
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
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet (2014) 0.98
Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility. Proc Natl Acad Sci U S A (2013) 0.94
The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and function. PLoS One (2013) 0.94
The Small GTPase Rsg1 is important for the cytoplasmic localization and axonemal dynamics of intraflagellar transport proteins. Cilia (2013) 0.92
Symmetry breakage in the vertebrate embryo: when does it happen and how does it work? Dev Biol (2014) 0.91
Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med (2017) 0.90
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. Am J Respir Cell Mol Biol (2015) 0.90
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc (2014) 0.87
Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev (2015) 0.86
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep (2015) 0.86
Association of Lis1 with outer arm dynein is modulated in response to alterations in flagellar motility. Mol Biol Cell (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
A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome. Med Mol Morphol (2014) 0.83
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
Primary ciliary dyskinesia. Semin Respir Crit Care Med (2015) 0.82
The ciliary inner dynein arm, I1 dynein, is assembled in the cytoplasm and transported by IFT before axonemal docking. Cytoskeleton (Hoboken) (2014) 0.81
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. PLoS Genet (2014) 0.80
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet (2015) 0.80
The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies. Cilia (2015) 0.80
The oligomeric outer dynein arm assembly factor CCDC103 is tightly integrated within the ciliary axoneme and exhibits periodic binding to microtubules. J Biol Chem (2015) 0.79
Orphan G-protein coupled receptor 22 (Gpr22) regulates cilia length and structure in the zebrafish Kupffer's vesicle. PLoS One (2014) 0.79
c21orf59/kurly Controls Both Cilia Motility and Polarization. Cell Rep (2016) 0.78
Chlamydomonas axonemal dynein assembly locus ODA8 encodes a conserved flagellar protein needed for cytoplasmic maturation of outer dynein arm complexes. Cytoskeleton (Hoboken) (2015) 0.78
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nat Commun (2017) 0.77
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet (2016) 0.77
Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients. PLoS One (2014) 0.77
Cryo-electron tomography of motile cilia and flagella. Cilia (2015) 0.77
Mutation analysis in patients with total sperm immotility. J Assist Reprod Genet (2015) 0.77
From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development. F1000Res (2013) 0.76
A prefoldin-associated WD-repeat protein (WDR92) is required for the correct architectural assembly of motile cilia. Mol Biol Cell (2016) 0.75
The evolving spectrum of ciliopathies and respiratory disease. Curr Opin Pediatr (2016) 0.75
Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs. J Vet Intern Med (2014) 0.75
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. BMC Med Genet (2015) 0.75
NudC regulates actin dynamics and ciliogenesis by stabilizing cofilin 1. Cell Res (2015) 0.75
The determination factors of left-right asymmetry disorders- a short review. Clujul Med (2017) 0.75
Stages of embryonic development of the zebrafish. Dev Dyn (1995) 42.72
Overview of structure and function of mammalian cilia. Annu Rev Physiol (2007) 4.90
Xenopus embryos regulate the nuclear localization of XMyoD. Genes Dev (1994) 4.77
Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development (2005) 4.64
Isolation of Chlamydomonas flagella and flagellar axonemes. Methods Enzymol (1986) 3.88
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature (2008) 3.28
Efficient recovery of ENU-induced mutations from the zebrafish germline. Genetics (1994) 3.24
Restricted expression of cardiac myosin genes reveals regulated aspects of heart tube assembly in zebrafish. Dev Biol (1999) 3.10
Early development of the zebrafish pronephros and analysis of mutations affecting pronephric function. Development (1998) 3.07
Genetic defects in ciliary structure and function. Annu Rev Physiol (2007) 2.94
Ciliary dysfunction in developmental abnormalities and diseases. Curr Top Dev Biol (2008) 2.88
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Foxj1 transcription factors are master regulators of the motile ciliogenic program. Nat Genet (2008) 2.58
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
Conserved requirement for EGF-CFC genes in vertebrate left-right axis formation. Genes Dev (1999) 1.74
Mutations affecting development of the midline and general body shape during zebrafish embryogenesis. Development (1996) 1.65
The Chlamydomonas reinhardtii ODA3 gene encodes a protein of the outer dynein arm docking complex. J Cell Biol (1997) 1.53
Conservation of PDX-1 structure, function, and expression in zebrafish. Endocrinology (1998) 1.46
Functional reconstitution of Chlamydomonas outer dynein arms from alpha-beta and gamma subunits: requirement of a third factor. J Cell Biol (1994) 1.45
Multiple left-right asymmetry defects in Shh(-/-) mutant mice unveil a convergence of the shh and retinoic acid pathways in the control of Lefty-1. Proc Natl Acad Sci U S A (1999) 1.43
Oda5p, a novel axonemal protein required for assembly of the outer dynein arm and an associated adenylate kinase. Mol Biol Cell (2004) 1.33
New functions for a vertebrate Rho guanine nucleotide exchange factor in ciliated epithelia. Development (2007) 1.26
The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch. Proc Natl Acad Sci U S A (2010) 1.15
High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child (2009) 1.08
Fish and frogs: models for vertebrate cilia signaling. Front Biosci (2008) 1.08
Large-scale isolation of Chlamydomonas flagella. Methods Cell Biol (1995) 1.07
Zebrafish MiR-430 promotes deadenylation and clearance of maternal mRNAs. Science (2006) 18.14
Fever with thrombocytopenia associated with a novel bunyavirus in China. N Engl J Med (2011) 13.18
MicroRNAs regulate brain morphogenesis in zebrafish. Science (2005) 11.16
The genome of the kinetoplastid parasite, Leishmania major. Science (2005) 8.64
When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol (2007) 8.28
25-hydroxyvitamin D and risk of myocardial infarction in men: a prospective study. Arch Intern Med (2008) 8.03
The primary transcriptome of the major human pathogen Helicobacter pylori. Nature (2010) 7.70
Prospective study of predictors of vitamin D status and cancer incidence and mortality in men. J Natl Cancer Inst (2006) 7.19
EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-activating mutations. Nature (2012) 7.01
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Genome analysis of the platypus reveals unique signatures of evolution. Nature (2008) 5.74
A potent and broad neutralizing antibody recognizes and penetrates the HIV glycan shield. Science (2011) 5.44
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
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
Nosocomial transmission of human granulocytic anaplasmosis in China. JAMA (2008) 5.01
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Target protectors reveal dampening and balancing of Nodal agonist and antagonist by miR-430. Science (2007) 4.72
Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development (2005) 4.64
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci U S A (2006) 4.56
Revealing structure and assembly cues for Arabidopsis root-inhabiting bacterial microbiota. Nature (2012) 4.42
Safety and immunogenicity of an inactivated adjuvanted whole-virion influenza A (H5N1) vaccine: a phase I randomised controlled trial. Lancet (2006) 4.22
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation (2007) 4.17
Primary thyroid cancer after a first tumour in childhood (the Childhood Cancer Survivor Study): a nested case-control study. Lancet (2005) 4.15
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
The genome sequence of Atlantic cod reveals a unique immune system. Nature (2011) 3.99
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. J Clin Invest (2008) 3.98
New primary neoplasms of the central nervous system in survivors of childhood cancer: a report from the Childhood Cancer Survivor Study. J Natl Cancer Inst (2006) 3.90
Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk. PLoS Genet (2010) 3.89
Systematic identification of long noncoding RNAs expressed during zebrafish embryogenesis. Genome Res (2011) 3.81
Planar cell polarity signalling couples cell division and morphogenesis during neurulation. Nature (2006) 3.80
Whole genome analysis of the marine Bacteroidetes'Gramella forsetii' reveals adaptations to degradation of polymeric organic matter. Environ Microbiol (2006) 3.79
Risk factors for prostate cancer incidence and progression in the health professionals follow-up study. Int J Cancer (2007) 3.77
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
Zebrafish behavioral profiling links drugs to biological targets and rest/wake regulation. Science (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
Differential regulation of germline mRNAs in soma and germ cells by zebrafish miR-430. Curr Biol (2006) 3.51
FOXP3 is an X-linked breast cancer suppressor gene and an important repressor of the HER-2/ErbB2 oncogene. Cell (2007) 3.46
Non-coding RNAs as regulators of embryogenesis. Nat Rev Genet (2011) 3.36
Genome expansion and gene loss in powdery mildew fungi reveal tradeoffs in extreme parasitism. Science (2010) 3.35
Complex-type N-glycan recognition by potent broadly neutralizing HIV antibodies. Proc Natl Acad Sci U S A (2012) 3.33
Nucleus accumbens dopamine differentially mediates the formation and maintenance of monogamous pair bonds. Nat Neurosci (2005) 3.29
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature (2008) 3.28
A murine lung cancer co-clinical trial identifies genetic modifiers of therapeutic response. Nature (2012) 3.24
Periodontal disease, tooth loss, and cancer risk in male health professionals: a prospective cohort study. Lancet Oncol (2008) 3.23
Induction of IL-17+ T cell trafficking and development by IFN-gamma: mechanism and pathological relevance in psoriasis. J Immunol (2008) 3.22
Brain-wide neuronal dynamics during motor adaptation in zebrafish. Nature (2012) 3.17
EZH2 is required for germinal center formation and somatic EZH2 mutations promote lymphoid transformation. Cancer Cell (2013) 3.13
Supersite of immune vulnerability on the glycosylated face of HIV-1 envelope glycoprotein gp120. Nat Struct Mol Biol (2013) 3.11
DNA origami with complex curvatures in three-dimensional space. Science (2011) 3.08
Receptor-binding specificity of pandemic influenza A (H1N1) 2009 virus determined by carbohydrate microarray. Nat Biotechnol (2009) 3.07
Genome sequence of the chlorinated compound-respiring bacterium Dehalococcoides species strain CBDB1. Nat Biotechnol (2005) 3.07
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
SNP and haplotype mapping for genetic analysis in the rat. Nat Genet (2008) 2.96
Genetic defects in ciliary structure and function. Annu Rev Physiol (2007) 2.94
Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses. Nat Genet (2012) 2.92
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Phosphorylation-dependent regulation of cytosolic localization and oncogenic function of Skp2 by Akt/PKB. Nat Cell Biol (2009) 2.91
TRPP2 and TRPV4 form a polymodal sensory channel complex. J Cell Biol (2008) 2.88
Hypocretin/orexin overexpression induces an insomnia-like phenotype in zebrafish. J Neurosci (2006) 2.86
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Targeting HIF1α eliminates cancer stem cells in hematological malignancies. Cell Stem Cell (2011) 2.80
Stroke as a late treatment effect of Hodgkin's Disease: a report from the Childhood Cancer Survivor Study. J Clin Oncol (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
Biochemical and proteomic analysis of the magnetosome membrane in Magnetospirillum gryphiswaldense. Appl Environ Microbiol (2004) 2.74
Late-occurring stroke among long-term survivors of childhood leukemia and brain tumors: a report from the Childhood Cancer Survivor Study. J Clin Oncol (2006) 2.71
Pulmonary complications in survivors of childhood and adolescent cancer. A report from the Childhood Cancer Survivor Study. Cancer (2002) 2.70
Escape behavior elicited by single, channelrhodopsin-2-evoked spikes in zebrafish somatosensory neurons. Curr Biol (2008) 2.69
Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. Mol Cell Biol (2003) 2.69
A prospective study of physical activity and incident and fatal prostate cancer. Arch Intern Med (2005) 2.66
The microRNA miR-23b suppresses IL-17-associated autoimmune inflammation by targeting TAB2, TAB3 and IKK-α. Nat Med (2012) 2.66
Chromatin signature of embryonic pluripotency is established during genome activation. Nature (2010) 2.64
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 embryonic stem cell-derived GABA neurons correct locomotion deficits in quinolinic acid-lesioned mice. Cell Stem Cell (2012) 2.62
Self-assembled water-soluble nucleic acid probe tiles for label-free RNA hybridization assays. Science (2008) 2.60
BISMA--fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences. BMC Bioinformatics (2010) 2.60
Differential diffusivity of Nodal and Lefty underlies a reaction-diffusion patterning system. Science (2012) 2.57
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology (2012) 2.57
Hox cluster disintegration with persistent anteroposterior order of expression in Oikopleura dioica. Nature (2004) 2.54