DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

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The Central Apparatus of Cilia and Eukaryotic Flagella

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Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility

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The use of whole-exome sequencing to disentangle complex phenotypes

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Global genetic analysis in mice unveils central role for cilia in congenital heart disease

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A general framework for estimating the relative pathogenicity of human genetic variants

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Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

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Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility

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The Emergence of the Conserved AAA+ ATPases Pontin and Reptin on the Signaling Landscape

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Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas

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High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

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Cilia, KIF3 molecular motor and nodal flow

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Two rotating cilia in the node cavity are sufficient to break left–right symmetry in the mouse embryo

(2012) Kyosuke Shinohara et al.   Nature Communications

Fluid flow and interlinked feedback loops establish left–right asymmetric decay of Cerl2 mRNA

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Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

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A unified taxonomy for ciliary dyneins

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Discrete PIH proteins function in the cytoplasmic preassembly of different subsets of axonemal dyneins

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Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy

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HSP90 at the hub of protein homeostasis: emerging mechanistic insights

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Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

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Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

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Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

LRRC50, a Conserved Ciliary Protein Implicated in Polycystic Kidney Disease

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Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

(2008) Heymut Omran et al.   NATURE

Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants

(2007) Jessica Sullivan-Brown et al.   DEVELOPMENTAL BIOLOGY