| # | Title | Journal | Year | Citations |
|---|
| 1 | The Generation R Study: design and cohort update 2017 | European Journal of Epidemiology | 2016 | 608 |
| 2 | Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy | Human Molecular Genetics | 1996 | 402 |
| 3 | Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better? | Journal of Allergy and Clinical Immunology | 2010 | 385 |
| 4 | The Fasting-induced Adipose Factor/Angiopoietin-like Protein 4 Is Physically Associated with Lipoproteins and Governs Plasma Lipid Levels and Adiposity | Journal of Biological Chemistry | 2006 | 366 |
| 5 | Generation of stable monoclonal antibody–producing B cell receptor–positive human memory B cells by genetic programming | Nature Medicine | 2010 | 260 |
| 6 | Intervention strategies to improve nutrition and health behaviours before conception | Lancet, The | 2018 | 254 |
| 7 | Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy | Journal of the American College of Cardiology | 2018 | 242 |
| 8 | Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study | Journal of Allergy and Clinical Immunology | 2018 | 233 |
| 9 | Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation | Blood | 2008 | 216 |
| 10 | The effects of selected probiotic strains on the development of eczema (the PandA study) | Allergy: European Journal of Allergy and Clinical Immunology | 2009 | 216 |
| 11 | Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis | Cell Reports | 2019 | 214 |
| 12 | The stressed neonatal kidney: from pathophysiology to clinical management of neonatal vasomotor nephropathy | Pediatric Nephrology | 2000 | 204 |
| 13 | 24(S)-Hydroxycholesterol Participates in a Liver X Receptor-controlled Pathway in Astrocytes That Regulates Apolipoprotein E-mediated Cholesterol Efflux | Journal of Biological Chemistry | 2006 | 204 |
| 14 | Temporal and spatial interplay of microbiota and intestinal mucosa drive establishment of immune homeostasis in conventionalized mice | Mucosal Immunology | 2012 | 201 |
| 15 | Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency | Human Molecular Genetics | 2004 | 198 |
| 16 | Dietary Inflammatory Index and Non-Communicable Disease Risk: A Narrative Review | Nutrients | 2019 | 198 |
| 17 | Heparan sulphate proteoglycans in Alzheimer's disease and amyloid‐related disorders | Lancet Neurology, The | 2003 | 192 |
| 18 | Epigenome-Wide Meta-Analysis of Methylation in Children Related to Prenatal NO 2 Air Pollution Exposure | Environmental Health Perspectives | 2017 | 176 |
| 19 | Pre- and post-natal growth in children of women who smoked in pregnancy | Early Human Development | 1996 | 174 |
| 20 | A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk | Journal of Molecular Medicine | 2001 | 154 |
| 21 | Principles of vaccine design—Lessons from nature | Vaccine | 2010 | 149 |
| 22 | Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency | Journal of Neurochemistry | 2006 | 147 |
| 23 | Use of guidelines improves the neurological outcome in glutaric aciduria type I | Annals of Neurology | 2010 | 147 |
| 24 | The Same IκBα Mutation in Two Related Individuals Leads to Completely Different Clinical Syndromes | Journal of Experimental Medicine | 2004 | 135 |
| 25 | RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection | Nature Genetics | 2009 | 124 |
| 26 | The General Movement Assessment Helps Us to Identify Preterm Infants at Risk for Cognitive Dysfunction | Frontiers in Psychology | 2016 | 123 |
| 27 | Respiratory Syncytial Virus Infection of Monocyte-Derived Dendritic Cells Decreases Their Capacity to Activate CD4 T Cells | Journal of Immunology | 2005 | 114 |
| 28 | Genetic Polymorphisms in Immunoresponse Genes TNFA, IL6, IL10, and TLR4 Are Associated With Recurrent Acute Otitis Media | Pediatrics | 2007 | 112 |
| 29 | Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study | Orphanet Journal of Rare Diseases | 2012 | 112 |
| 30 | A Systemic Neutrophil Response Precedes Robust CD8 + T-Cell Activation during Natural Respiratory Syncytial Virus Infection in Infants | Journal of Virology | 2010 | 109 |
| 31 | Respiratory Syncytial Virus-Induced Activation and Migration of Respiratory Dendritic Cells and Subsequent Antigen Presentation in the Lung-Draining Lymph Node | Journal of Virology | 2009 | 107 |
| 32 | Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany | Pediatric Research | 2007 | 102 |
| 33 | Restricted utilization of germ-line VH3 genes and short diverse third complementarity-determining regions (CDR3) in human fetal B lymphocyte immunoglobulin heavy chain rearrangements | European Journal of Immunology | 1992 | 96 |
| 34 | Heparan sulfate proteoglycan expression in cerebrovascular amyloid β deposits in Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis (Dutch) brains | Acta Neuropathologica | 2001 | 93 |
| 35 | Long-term exclusive zinc monotherapy in symptomatic Wilson disease: Experience in 17 patients | Hepatology | 2009 | 93 |
| 36 | Graft-versus-lymphoma effect of donor lymphocyte infusion in indolent lymphomas relapsed after allogeneic stem cell transplantation | Bone Marrow Transplantation | 2003 | 91 |
| 37 | Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency | Annals of Neurology | 2002 | 88 |
| 38 | Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey | Genetics in Medicine | 2011 | 86 |
| 39 | Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment | Orphanet Journal of Rare Diseases | 2015 | 84 |
| 40 | Cohort Profile: The Rotterdam Periconceptional Cohort (Predict Study) | International Journal of Epidemiology | 2016 | 83 |
| 41 | Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency | Journal of Allergy and Clinical Immunology | 2014 | 82 |
| 42 | Septo-optic dysplasia associated with a new mitochondrialcytochrome b mutation | Annals of Neurology | 2002 | 81 |
| 43 | Concurrent bacterial infection and prolonged mechanical ventilation in infants with respiratory syncytial virus lower respiratory tract disease | Intensive Care Medicine | 2005 | 80 |
| 44 | An evaluation of the inhibitory effects against rotavirus infection of edible plant extracts | Virology Journal | 2012 | 80 |
| 45 | Hyperoxaluria Requires TNF Receptors to Initiate Crystal Adhesion and Kidney Stone Disease | Journal of the American Society of Nephrology: JASN | 2017 | 78 |
| 46 | Host Polymorphisms in Interleukin 4, Complement Factor H, and C‐Reactive Protein Associated with Nasal Carriage ofStaphylococcus aureusand Occurrence of Boils | Journal of Infectious Diseases | 2008 | 77 |
| 47 | Early life antibiotic use and the risk of asthma and asthma exacerbations in children | Pediatric Allergy and Immunology | 2017 | 77 |
| 48 | Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options | Biochimica Et Biophysica Acta - Molecular Basis of Disease | 2011 | 75 |
| 49 | Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause | International Journal of Oral and Maxillofacial Surgery | 2012 | 75 |
| 50 | Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients | Molecular Genetics and Metabolism | 2012 | 71 |
