| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840-850, 2010 | 379 | 2010 |
| CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 NT Gorden, HH Arts, MA Parisi, KLM Coene, SJF Letteboer, ... The American Journal of Human Genetics 83 (5), 559-571, 2008 | 263 | 2008 |
| KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ... Nature genetics 43 (6), 601-606, 2011 | 252 | 2011 |
| An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 243 | 2016 |
| OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin KLM Coene, R Roepman, D Doherty, B Afroze, HY Kroes, SJF Letteboer, ... The American Journal of Human Genetics 85 (4), 465-481, 2009 | 215 | 2009 |
| Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients KLM Coene, LAJ Kluijtmans, E van der Heeft, UFH Engelke, S de Boer, ... Journal of inherited metabolic disease 41, 337-353, 2018 | 169 | 2018 |
| Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa D Bandah-Rozenfeld, RWJ Collin, E Banin, LI Van Den Born, KLM Coene, ... The American Journal of Human Genetics 87 (2), 199-208, 2010 | 116 | 2010 |
| CAD mutations and uridine-responsive epileptic encephalopathy J Koch, JA Mayr, B Alhaddad, C Rauscher, J Bierau, R Kovacs-Nagy, ... Brain 140 (2), 279-286, 2017 | 114 | 2017 |
| The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase KLM Coene, DA Mans, K Boldt, CJ Gloeckner, J van Reeuwijk, E Bolat, ... Human molecular genetics 20 (18), 3592-3605, 2011 | 80 | 2011 |
| Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry-A tutorial perspective J Martens, RE van Outersterp, RJ Vreeken, F Cuyckens, KLM Coene, ... Analytica chimica acta 1093, 1-15, 2020 | 67 | 2020 |
| Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy J Martens, G Berden, H Bentlage, KLM Coene, UF Engelke, D Wishart, ... Journal of Inherited Metabolic Disease 41, 367-377, 2018 | 53 | 2018 |
| Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy UFH Engelke, RE Van Outersterp, J Merx, FAMG Van Geenen, ... The Journal of clinical investigation 131 (15), 2021 | 43 | 2021 |
| Reference-standard free metabolite identification using infrared ion spectroscopy RE van Outersterp, KJ Houthuijs, G Berden, UF Engelke, LAJ Kluijtmans, ... International Journal of Mass Spectrometry 443, 77-85, 2019 | 42 | 2019 |
| How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques SB Wortmann, MM Oud, M Alders, KLM Coene, SN van der Crabben, ... Journal of Inherited Metabolic Disease 45 (4), 663-681, 2022 | 25 | 2022 |
| Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism RE van Outersterp, SJ Moons, UFH Engelke, H Bentlage, TMA Peters, ... Communications biology 4 (1), 367, 2021 | 25 | 2021 |
| Metabolite identification using infrared ion spectroscopy─ novel biomarkers for pyridoxine-dependent epilepsy RE van Outersterp, UFH Engelke, J Merx, G Berden, M Paul, T Thomulka, ... Analytical chemistry 93 (46), 15340-15348, 2021 | 24 | 2021 |
| Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra J Václavík, KLM Coene, I Vrobel, L Najdekr, D Friedecký, R Karlíková, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2018 | 24 | 2018 |
| Nicotinamide riboside improves ataxia scores and immunoglobulin levels in ataxia telangiectasia SJG Veenhuis, NJH van Os, AJWM Janssen, MHJC van Gerven, ... Movement Disorders 36 (12), 2951-2957, 2021 | 22 | 2021 |
| Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles TMA Peters, UFH Engelke, S de Boer, E van der Heeft, C Pritsch, ... Journal of Inherited Metabolic Disease 43 (5), 1112-1120, 2020 | 17 | 2020 |
| Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism LKM Steinbusch, P Wang, HWAH Waterval, FAPM Stassen, KLM Coene, ... Journal of Inherited Metabolic Disease 44 (5), 1113-1123, 2021 | 16 | 2021 |
