Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

Don’s paper with collaborators at UNC and WashU is a nice example of how whole exome sequencing and bioinformatic analysis can be effectively used to identify pathogenic variants in rare genetic diseases. The article is now available online in PLoS Genetics. Congratulations! Abstract Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, reduced fertility, […]