Karlien L. M. Coene
Radboud University Nijmegen(NL)University Medical Center(US)Radboud University Medical Center(NL)Máxima Medisch Centrum(NL)
Publications by Year
Research Areas
Metabolomics and Mass Spectrometry Studies, Metabolism and Genetic Disorders, Diet and metabolism studies, Genetic and Kidney Cyst Diseases, Mass Spectrometry Techniques and Applications
Most-Cited Works
- → Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy(2010)318 cited
- → An organelle-specific protein landscape identifies novel diseases and molecular mechanisms(2016)255 cited
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290(2008)227 cited
- → OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin(2009)208 cited
- → Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients(2018)203 cited