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Scholarly Works (2 results)

Article
Peer Reviewed

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Moore, Anthony;
Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
Bacchelli, C;
Beales, PL;
Scambler, PJ

UC San Francisco Previously Published Works (2014)

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and

Article
Peer Reviewed

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Barkovich, Anthony;
Wheway, G;
Schmidts, M;
Mans, DA;
Szymanska, K;
Nguyen, TMT;
Racher, H;
Phelps, IG;
Toedt, G;
Kennedy, J;
Wunderlich, KA

UC San Francisco Previously Published Works (2015)

© 2015 Macmillan Publishers Limited.Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the pri