| 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 | 370 | 2005 |
| 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 | 336 | 2011 |
| 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 | 311 | 2016 |
| 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), 1380-1397, 2017 | 280 | 2017 |
| 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 | 248 | 2012 |
| 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 | 231 | 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 | 224 | 2017 |
| 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 | 221 | 2001 |
| 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 | 218 | 2015 |
| 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 | 204 | 2018 |
| 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, 1-9, 2014 | 181 | 2014 |
| 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 |
| 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 | 163 | 2003 |
| 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 | 162 | 2014 |
| 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 | 160 | 2021 |
| FLAGS, frequently mutated genes in public exomes C Shyr, M Tarailo-Graovac, M Gottlieb, JJY Lee, C van Karnebeek, ... BMC medical genomics 7, 1-14, 2014 | 154 | 2014 |
| Etiology of mental retardation in children referred to a tertiary care center: a prospective study CDM van Karnebeek, FY Scheper, NG Abeling, M Alders, PG Barth, ... American journal on mental retardation 110 (4), 253-267, 2005 | 150 | 2005 |
| 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 | 149 | 2016 |
| Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations F Petrij, HG Dauwerse, RI Blough, RH Giles, JJ van der Smagt, ... Journal of medical genetics 37 (3), 168-176, 2000 | 142 | 2000 |
| 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 | 140 | 2016 |
