| A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases K Neveling, I Feenstra, C Gilissen, LH Hoefsloot, EJ Kamsteeg, ... Human mutation 34 (12), 1721-1726, 2013 | 418 | 2013 |
| Whole exome sequencing of suspected mitochondrial patients in clinical practice SB Wortmann, DA Koolen, JA Smeitink, L van den Heuvel, RJ Rodenburg Journal of inherited metabolic disease 38, 437-443, 2015 | 277 | 2015 |
| Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ... Nature genetics 44 (7), 797-802, 2012 | 233 | 2012 |
| 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 | 193 | 2018 |
| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 187 | 2020 |
| Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 149 | 2022 |
| The natural history of classic galactosemia: lessons from the GalNet registry ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ... Orphanet journal of rare diseases 14, 1-11, 2019 | 148 | 2019 |
| CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ... The American Journal of Human Genetics 96 (2), 245-257, 2015 | 136 | 2015 |
| Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor SB Wortmann, JLK Van Hove, TGJ Derks, N Chevalier, V Knight, A Koller, ... Blood, The Journal of the American Society of Hematology 136 (9), 1033-1043, 2020 | 134 | 2020 |
| 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 | 128 | 2017 |
| Dimerization of the cytokine receptors gp130 and LIFR analysed in single cells B Giese, C Roderburg, M Sommerauer, SB Wortmann, S Metz, ... Journal of cell science 118 (21), 5129-5140, 2005 | 125 | 2005 |
| Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy P Smits, A Saada, SB Wortmann, AJ Heister, M Brink, R Pfundt, C Miller, ... European journal of human genetics 19 (4), 394-399, 2011 | 124 | 2011 |
| Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature SB Wortmann, M Duran, Y Anikster, PG Barth, W Sperl, J Zschocke, ... Journal of inherited metabolic disease 36, 923-928, 2013 | 121 | 2013 |
| The 3-methylglutaconic acidurias: what’s new? SB Wortmann, LA Kluijtmans, UFH Engelke, RA Wevers, E Morava Journal of inherited metabolic disease 35, 13-22, 2012 | 115 | 2012 |
| Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy SB Wortmann, RJT Rodenburg, A Jonckheere, MC De Vries, M Huizing, ... Brain 132 (1), 136-146, 2009 | 110 | 2009 |
| 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients SB Wortmann, LAJ Kluijtmans, RJ Rodenburg, JO Sass, J Nouws, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2013 | 109 | 2013 |
| Major depression in adolescent children consecutively diagnosed with mitochondrial disorder S Koene, TL Kozicz, RJT Rodenburg, CM Verhaak, MC De Vries, ... Journal of affective disorders 114 (1-3), 327-332, 2009 | 109 | 2009 |
| Molecular structural diversity of mitochondrial cardiolipins G Oemer, K Lackner, K Muigg, G Krumschnabel, K Watschinger, S Sailer, ... Proceedings of the National Academy of Sciences 115 (16), 4158-4163, 2018 | 108 | 2018 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 107 | 2018 |
| Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome G Inak, A Rybak-Wolf, P Lisowski, TM Pentimalli, R Jüttner, P Glažar, ... Nature Communications 12 (1), 1929, 2021 | 100 | 2021 |
