Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Edgar A. Otto, Bart Loeys, Hemant Khanna et al. · Nature Genetics · 2005 · 404 citations

Life Sciences, Genetics, Molecular Genetics +6

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu et al. · Nature Genetics · 2011 · 379 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Philip L. Beales, Elizabeth Bland, Jonathan L. Tobin et al. · Nature Genetics · 2007 · 340 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen, Heleen H. Arts, Alexander Hoischen et al. · The American Journal of Human Genetics · 2010 · 279 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud et al. · The American Journal of Human Genetics · 2011 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11