| # | Title | Journal | Year | Citations |
|---|
| 1 | Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome | Cell | 1998 | 989 |
| 2 | A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis | Nature Genetics | 1998 | 968 |
| 3 | Alendronate for the Treatment of Osteoporosis in Men | New England Journal of Medicine | 2000 | 919 |
| 4 | Multiple common variants for celiac disease influencing immune gene expression | Nature Genetics | 2010 | 871 |
| 5 | Strict Blood-Pressure Control and Progression of Renal Failure in Children | New England Journal of Medicine | 2009 | 798 |
| 6 | New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs | Cell | 2016 | 702 |
| 7 | Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial | Lancet, The | 2013 | 687 |
| 8 | Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease | Nature Genetics | 2011 | 682 |
| 9 | An empirically based tool for analyzing mortality associated with congenital heart surgery | Journal of Thoracic and Cardiovascular Surgery | 2009 | 635 |
| 10 | Integrated Genomics Identifies Five Medulloblastoma Subtypes with Distinct Genetic Profiles, Pathway Signatures and Clinicopathological Features | PLoS ONE | 2008 | 606 |
| 11 | Dual Energy X-ray Absorptiometry Interpretation and Reporting in Children and Adolescents: The 2007 ISCD Pediatric Official Positions | Journal of Clinical Densitometry | 2008 | 480 |
| 12 | Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma | Nature Genetics | 2009 | 391 |
| 13 | Lower protein content in infant formula reduces BMI and obesity risk at school age: follow-up of a randomized trial | American Journal of Clinical Nutrition | 2014 | 369 |
| 14 | European Evidence-based Consensus: Inflammatory Bowel Disease and Malignancies | Journal of Crohn's and Colitis | 2015 | 328 |
| 15 | Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci | PLoS Genetics | 2011 | 307 |
| 16 | Molecular neurobiology of mTOR | Neuroscience | 2017 | 302 |
| 17 | Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification | Nature Genetics | 2000 | 295 |
| 18 | Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency | Nature Genetics | 2003 | 276 |
| 19 | Relationship between clinical parameters and cytokine profiles in inflamed gingival tissue and serum samples from patients with chronic periodontitis | Journal of Clinical Periodontology | 2003 | 274 |
| 20 | The miR-17/92 Polycistron Is Up-regulated in Sonic Hedgehog–Driven Medulloblastomas and Induced by N-myc in Sonic Hedgehog–Treated Cerebellar Neural Precursors | Cancer Research | 2009 | 273 |
| 21 | Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort | Lancet Oncology, The | 2018 | 268 |
| 22 | Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome | Journal of Allergy and Clinical Immunology | 2010 | 247 |
| 23 | Safety and Efficacy of Adalimumab for Moderate to Severe Crohn's Disease in Children | Gastroenterology | 2012 | 246 |
| 24 | Children and adults with primary antibody deficiencies gain quality of life by subcutaneous IgG self-infusions at home | Journal of Allergy and Clinical Immunology | 2004 | 237 |
| 25 | Vitamin D Toxicity–A Clinical Perspective | Frontiers in Endocrinology | 2018 | 237 |
| 26 | Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood | Journal of Experimental Medicine | 2012 | 231 |
| 27 | Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response | Blood | 2011 | 224 |
| 28 | The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis | Annals of Internal Medicine | 2006 | 219 |
| 29 | Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients | Seminars in Hematology | 2004 | 215 |
| 30 | Milk protein intake, the metabolic-endocrine response, and growth in infancy: data from a randomized clinical trial | American Journal of Clinical Nutrition | 2011 | 208 |
| 31 | Results from the ARTEMIS DISK Global Antifungal Surveillance Study, 1997 to 2007: 10.5-Year Analysis of Susceptibilities of Noncandidal Yeast Species to Fluconazole and Voriconazole Determined by CLSI Standardized Disk Diffusion Testing | Journal of Clinical Microbiology | 2009 | 205 |
| 32 | Renal Cell Carcinoma in Tuberous Sclerosis Complex | American Journal of Surgical Pathology | 2014 | 203 |
| 33 | Pediatric and adult sonic hedgehog medulloblastomas are clinically and molecularly distinct | Acta Neuropathologica | 2011 | 195 |
| 34 | ECCO-ESCP Consensus on Surgery for Crohn’s Disease | Journal of Crohn's and Colitis | 2018 | 191 |
| 35 | Differences in presentation and progression between severe FIC1 and BSEP deficiencies | Journal of Hepatology | 2010 | 182 |
| 36 | SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development | Journal of the American Society of Nephrology: JASN | 2008 | 177 |
| 37 | Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness | Nature Genetics | 2012 | 175 |
| 38 | Liver Biopsy in Children | Journal of Pediatric Gastroenterology and Nutrition | 2015 | 165 |
| 39 | Optic Pathway Gliomas in Children With and Without Neurofibromatosis 1 | Journal of Child Neurology | 2003 | 163 |
| 40 | ESPGHAN/ESPEN/ESPR/CSPEN guidelines on pediatric parenteral nutrition: Lipids | Clinical Nutrition | 2018 | 163 |
| 41 | A Randomized Trial to Assess the Impact of Early Steroid Withdrawal on Growth in Pediatric Renal Transplantation: The TWIST Study | American Journal of Transplantation | 2010 | 156 |
| 42 | Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study | Lancet Oncology, The | 2014 | 152 |
| 43 | European Crohn’s and Colitis Organisation Topical Review on Treatment Withdrawal [‘Exit Strategies’] in Inflammatory Bowel Disease | Journal of Crohn's and Colitis | 2018 | 151 |
| 44 | Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing | Human Molecular Genetics | 2012 | 147 |
| 45 | Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): results from a prospective cohort study | Lancet Respiratory Medicine,the | 2015 | 147 |
| 46 | Infantile colic, prolonged crying and maternal postnatal depression | Acta Paediatrica, International Journal of Paediatrics | 2009 | 144 |
| 47 | Molecular genetic characterization of theEWS/ATF1fusion gene in clear cell sarcoma of tendons and aponeuroses | International Journal of Cancer | 2002 | 135 |
| 48 | Myocardial perfusion and function of the systemic right ventricle in patients after atrial switch procedure for complete transposition: long-term follow-up | Journal of the American College of Cardiology | 2000 | 132 |
| 49 | Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations | European Journal of Human Genetics | 2000 | 130 |
| 50 | Phase II trial of temsirolimus in children with high-grade glioma, neuroblastoma and rhabdomyosarcoma | European Journal of Cancer | 2012 | 130 |
