| Hyperglycemia enhances coagulation and reduces neutrophil degranulation, whereas hyperinsulinemia inhibits fibrinolysis during human endotoxemia ME Stegenga, SN van der Crabben, RME Blümer, M Levi, JCM Meijers, ... Blood, The Journal of the American Society of Hematology 112 (1), 82-89, 2008 | 322 | 2008 |
| Hyperglycemia stimulates coagulation, whereas hyperinsulinemia impairs fibrinolysis in healthy humans ME Stegenga, SN van der Crabben, M Levi, AF de Vos, MW Tanck, ... Diabetes 55 (6), 1807-1812, 2006 | 303 | 2006 |
| Sparse production but preferential incorporation of recently produced naive T cells in the human peripheral pool N Vrisekoop, I den Braber, AB de Boer, AFC Ruiter, MT Ackermans, ... Proceedings of the National Academy of Sciences 105 (16), 6115-6120, 2008 | 276 | 2008 |
| An update on serine deficiency disorders SN Van der Crabben, NM Verhoeven-Duif, EH Brilstra, L Van Maldergem, ... Journal of inherited metabolic disease 36, 613-619, 2013 | 130 | 2013 |
| Early endotoxemia increases peripheral and hepatic insulin sensitivity in healthy humans SN van der Crabben, RME Blumer, ME Stegenga, MT Ackermans, ... The Journal of Clinical Endocrinology & Metabolism 94 (2), 463-468, 2009 | 94 | 2009 |
| Aminoacyl-tRNA synthetase deficiencies in search of common themes SA Fuchs, IF Schene, G Kok, JM Jansen, PGJ Nikkels, KLI van Gassen, ... Genetics in Medicine 21 (2), 319-330, 2019 | 90 | 2019 |
| Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease SN Van Der Crabben, MP Hennus, GA McGregor, DI Ritter, ... The Journal of clinical investigation 126 (8), 2881-2892, 2016 | 85 | 2016 |
| Identification of human D lactate dehydrogenase deficiency GR Monroe, AM van Eerde, F Tessadori, KJ Duran, SMC Savelberg, ... Nature communications 10 (1), 1477, 2019 | 78 | 2019 |
| Recommendations for whole genome sequencing in diagnostics for rare diseases E Souche, S Beltran, E Brosens, JW Belmont, M Fossum, O Riess, ... European Journal of Human Genetics 30 (9), 1017-1021, 2022 | 67 | 2022 |
| Stimulation of gluconeogenesis by intravenous lipids in preterm infants: response depends on fatty acid profile AAMW van Kempen, SN van der Crabben, MT Ackermans, E Endert, ... American Journal of Physiology-Endocrinology and Metabolism 290 (4), E723-E730, 2006 | 65 | 2006 |
| Prolonged fasting induces peripheral insulin resistance, which is not ameliorated by high-dose salicylate SN van der Crabben, G Allick, MT Ackermans, E Endert, JA Romijn, ... The Journal of Clinical Endocrinology & Metabolism 93 (2), 638-641, 2008 | 61 | 2008 |
| Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1 GR Monroe, M Harakalova, SN van der Crabben, D Majoor‐Krakauer, ... American Journal of Medical Genetics Part A 167 (6), 1196-1203, 2015 | 59 | 2015 |
| Adrenoleukodystrophy newborn screening in the Netherlands (SCAN Study): the X-factor RW Barendsen, IME Dijkstra, WF Visser, M Alders, J Bliek, A Boelen, ... Frontiers in cell and developmental biology 8, 499, 2020 | 54 | 2020 |
| Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms … SN van der Crabben, M Harakalova, EH Brilstra, FMC van Berkestijn, ... American Journal of Medical Genetics Part A 164 (1), 29-35, 2014 | 45 | 2014 |
| Hyperglycemia prevents the suppressive effect of hyperinsulinemia on plasma adiponectin levels in healthy humans RME Blumer, SN van der Crabben, ME Stegenga, MW Tanck, ... American Journal of Physiology-Endocrinology and Metabolism 295 (3), E613-E617, 2008 | 40 | 2008 |
| Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions GH Renkema, G Visser, F Baertling, LT Wintjes, VM Wolters, ... Human genetics 136, 759-769, 2017 | 37 | 2017 |
| Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation S van der Crabben, E van Binsbergen, M Ausems, M Poot, M Bierings, ... Leukemia research 34 (1), e8-e12, 2010 | 33 | 2010 |
| Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t (16; 21) in a series of three RUNX1-mutated FPD/AML pedigrees A Buijs, M Poot, S Van Der Crabben, B Van Der Zwaag, ... Leukemia 26 (9), 2151-2154, 2012 | 32 | 2012 |
| Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia HH Huidekoper, AM Bosch, SN Van Der Crabben, HP Sauerwein, ... Molecular genetics and metabolism 84 (3), 265-272, 2005 | 30 | 2005 |
| 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 |
