| Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up S Stockler, B Plecko, SM Gospe Jr, M Coulter-Mackie, M Connolly, ... Molecular genetics and metabolism 104 (1-2), 48-60, 2011 | 401 | 2011 |
| Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness CDM Van Karnebeek, MCE Jansweijer, AGE Leenders, M Offringa, ... European journal of human genetics 13 (1), 6-25, 2005 | 376 | 2005 |
| Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ... Genetics in Medicine 19 (12), 1380-1380, 2017 | 353 | 2017 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 341 | 2016 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 315 | 2021 |
| A proposed nosology of inborn errors of metabolism CR Ferreira, CDM van Karnebeek, J Vockley, N Blau Genetics in medicine 21 (1), 102-106, 2019 | 305 | 2019 |
| Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations JM Chinsky, R Singh, C Ficicioglu, CDM Van Karnebeek, M Grompe, ... Genetics in Medicine 19 (12), 1380-1395, 2017 | 299 | 2017 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 279 | 2018 |
| Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review CDM van Karnebeek, S Stockler Molecular genetics and metabolism 105 (3), 368-381, 2012 | 274 | 2012 |
| The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ... Journal of Medical Genetics 52 (7), 431-437, 2015 | 246 | 2015 |
| Natural history of cardiovascular manifestations in Marfan syndrome CDM Van Karnebeek, MSJ Naeff, BJM Mulder, RCM Hennekam, ... Archives of disease in childhood 84 (2), 129-137, 2001 | 236 | 2001 |
| NAD+ homeostasis in human health and disease R Zapata‐Pérez, RJA Wanders, CDM van Karnebeek, RH Houtkooper EMBO molecular medicine 13 (7), e13943, 2021 | 234 | 2021 |
| 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 (3), 337-353, 2018 | 221 | 2018 |
| FLAGS, frequently mutated genes in public exomes C Shyr, M Tarailo-Graovac, M Gottlieb, JJY Lee, C van Karnebeek, ... BMC medical genomics 7 (1), 64, 2014 | 208 | 2014 |
| A novel recurrent mutation in ATP1A3 causes CAPOS syndrome MK Demos, CDM van Karnebeek, CJD Ross, S Adam, Y Shen, SH Zhan, ... Orphanet journal of rare diseases 9 (1), 15, 2014 | 205 | 2014 |
| NANS-mediated synthesis of sialic acid is required for brain and skeletal development CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ... Nature Genetics 48 (7), 777-784, 2016 | 181 | 2016 |
| The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource CDM Van Karnebeek, M Shevell, J Zschocke, JB Moeschler, S Stockler Molecular genetics and metabolism 111 (4), 428-438, 2014 | 180 | 2014 |
| Pyridoxine-dependent epilepsy: an expanding clinical spectrum CDM van Karnebeek, SA Tiebout, J Niermeijer, BT Poll-The, A Ghani, ... Pediatric Neurology 59, 6-12, 2016 | 173 | 2016 |
| Phenotypic abnormalities: terminology and classification JHM Merks, CDM van Karnebeek, HN Caron, RCM Hennekam American journal of medical genetics Part A 123 (3), 211-230, 2003 | 173 | 2003 |
| Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring S Stockler-Ipsiroglu, C Van Karnebeek, N Longo, GC Korenke, ... Molecular Genetics and Metabolism 111 (1), 16-25, 2014 | 162 | 2014 |
