Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

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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

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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet (2013) 1.08

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LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. PLoS One (2013) 1.04

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Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. PLoS One (2012) 1.02

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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet (2014) 0.98

Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. Am J Respir Cell Mol Biol (2008) 0.96

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Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes. Hum Genet (2010) 0.91

Handedness and situs inversus in primary ciliary dyskinesia. Proc Biol Sci (2004) 0.91

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction. PLoS Genet (2014) 0.91

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Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia. Biol Reprod (2011) 0.89

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Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir Res (2010) 0.84

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet (2015) 0.84

Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations. PLoS One (2010) 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

Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25. J Med Genet (2006) 0.83

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet (2014) 0.83

Effect of localization, length and orientation of chondrocytic primary cilium on murine growth plate organization. J Theor Biol (2011) 0.82

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet (2010) 0.81

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Small heat shock proteins are necessary for heart migration and laterality determination in zebrafish. Dev Biol (2013) 0.81

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Am J Respir Cell Mol Biol (2016) 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

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Ciliary ultrastructure in two sisters with Kartagener's syndrome. Med Mol Morphol (2007) 0.78

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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

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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

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

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