The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients
Intisar Al Alawi(Ministry of Health), John A. Sayer(Newcastle University), Mohamed S. Al Riyami(Ministry of Health), Issa Al Salmi(Oman Medical College), Miguel Barroso‐Gil(Clinical Research Institute), Eric Olinger(Cliniques Universitaires Saint-Luc), Laura Powell(University of Maryland, Baltimore)
Cited by 6
Related Papers
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
|Nature Genetics|2006|579
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
|Nature Genetics|2005|404
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
|Cell|2012|392
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
|Human Molecular Genetics|2006|381
Germline selection shapes human mitochondrial DNA diversity
|Science|2019|253