Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

(2013) R G Coussa et al.   CLINICAL GENETICS

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport GeneIFT140in Skeletal Ciliopathies with Early Progressive Kidney Disease

(2013) Miriam Schmidts et al.   HUMAN MUTATION

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

(2013) Sylvia Hoff et al.   NATURE GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Educational paper

(2011) Carsten Bergmann   EUROPEAN JOURNAL OF PEDIATRICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

The primary cilium at a glance

(2010) P. Satir et al.   JOURNAL OF CELL SCIENCE