John A. Sayer
National Health Service(GB)Boston Children's Hospital(US)Harvard University(US)Heidelberg University(DE)Newcastle upon Tyne Hospitals NHS Foundation Trust(GB)Freeman Hospital(GB)University Hospital Heidelberg(DE)National Institute for Health Research(GB)Clinical Research Institute(US)NIHR Newcastle Biomedical Research Centre(GB)Wellcome Centre for Mitochondrial Research(GB)ERN GUARD-Heart(NL)Boston Children's Museum(US)University of Newcastle Australia(AU)Newcastle University(GB)Heidelberg University(US)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Renal and related cancers, Biomedical Research and Pathophysiology, Kidney Stones and Urolithiasis Treatments, Renal Diseases and Glomerulopathies
Most-Cited Works
- → The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4(2006)572 cited
- → Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin(2005)404 cited
- → Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling(2012)391 cited
- → 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(2006)381 cited
- → Germline selection shapes human mitochondrial DNA diversity(2019)247 cited
- → Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis(2014)240 cited