| # | Title | Journal | Year | Citations |
|---|
| 1 | Management of high blood pressure in children and adolescents: recommendations of the European Society of Hypertension | Journal of Hypertension | 2009 | 620 |
| 2 | Diagnosis and treatment of asthma in childhood: a PRACTALL consensus report | Allergy: European Journal of Allergy and Clinical Immunology | 2008 | 442 |
| 3 | Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I | Nature Genetics | 1998 | 377 |
| 4 | International consensus on (ICON) pediatric asthma | Allergy: European Journal of Allergy and Clinical Immunology | 2012 | 327 |
| 5 | A genome-wide association study of anorexia nervosa | Molecular Psychiatry | 2014 | 282 |
| 6 | Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 185 |
| 7 | Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma | Human Mutation | 2010 | 184 |
| 8 | Global phylogeography and ancient evolution of the widespread human gut virus crAssphage | Nature Microbiology | 2019 | 184 |
| 9 | TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy | Nature Genetics | 2008 | 183 |
| 10 | Tumor Risk in Disorders of Sex Development | Sexual Development | 2010 | 155 |
| 11 | Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency | Pediatric Research | 2006 | 142 |
| 12 | A new case of ALG8 deficiency (CDG Ih) | Journal of Inherited Metabolic Disease | 2009 | 140 |
| 13 | Long‐term follow‐up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation | Liver International | 2011 | 114 |
| 14 | Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice | Orphanet Journal of Rare Diseases | 2014 | 110 |
| 15 | Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency | Proceedings of the National Academy of Sciences of the United States of America | 2011 | 107 |
| 16 | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia | Leukemia | 2012 | 106 |
| 17 | Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes | Diabetes Care | 2009 | 104 |
| 18 | Vitamin D Status in Central Europe | International Journal of Endocrinology | 2014 | 103 |
| 19 | Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b | Biochemical Journal | 2010 | 88 |
| 20 | Altered properties of mitochondrial ATP-synthase in patients with a T → G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA | Biochimica Et Biophysica Acta - Molecular Basis of Disease | 1995 | 87 |
| 21 | Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation | Nature Communications | 2018 | 81 |
| 22 | Screening and diagnosis of congenital disorders of glycosylation | Clinica Chimica Acta | 2007 | 75 |
| 23 | Meropenem Pharmacokinetics in the Newborn | Antimicrobial Agents and Chemotherapy | 2009 | 75 |
| 24 | Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED | Human Mutation | 2001 | 74 |
| 25 | Mutations in ANTXR1 Cause GAPO Syndrome | American Journal of Human Genetics | 2013 | 73 |
| 26 | Control of hypertension in children after renal transplantation | Pediatric Transplantation | 2006 | 72 |
| 27 | Environmental Factors Associated with Disease Progression after the First Demyelinating Event: Results from the Multi-Center SET Study | PLoS ONE | 2013 | 68 |
| 28 | Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY) | BMC Medical Genetics | 2010 | 67 |
| 29 | Deficiency of mitochondrial ATP synthase of nuclear genetic origin | Neuromuscular Disorders | 2006 | 66 |
| 30 | Regression of Left-Ventricular Hypertrophy in Children and Adolescents With Hypertension During Ramipril Monotherapy | American Journal of Hypertension | 2007 | 66 |
| 31 | A novel deficiency of mitochondrial ATPase of nuclear origin | Human Molecular Genetics | 1999 | 65 |
| 32 | Prevalence of Hypertension in Children with Early-Stage ADPKD | Clinical Journal of the American Society of Nephrology: CJASN | 2018 | 65 |
| 33 | Celiac disease, gluten-free diet, and oats | Nutrition Reviews | 2011 | 61 |
| 34 | Blood Pressure, Renal Function, and Proteinuria in Children with Unilateral Renal Agenesis | Kidney and Blood Pressure Research | 2006 | 60 |
| 35 | TMEM16A in Cystic Fibrosis: Activating or Inhibiting? | Frontiers in Pharmacology | 2019 | 59 |
| 36 | Gut Virome Sequencing in Children With Early Islet Autoimmunity | Diabetes Care | 2015 | 58 |
| 37 | Absence of breast-feeding is associated with the risk of type 1 diabetes: a case–control study in a population with rapidly increasing incidence | European Journal of Pediatrics | 2006 | 56 |
| 38 | The Diagnostic Role of Urinary N-Acetyl-β-D-glucosaminidase (NAG) Activity in the Detection of Renal Tubular Impairment | Acta Medica (Hradec Kralove) | 2005 | 55 |
| 39 | Antibiotic administration reduces the rate of intraamniotic inflammation in preterm prelabor rupture of the membranes | American Journal of Obstetrics and Gynecology | 2020 | 53 |
| 40 | Refining clinical phenotypes in septo-optic dysplasia based on MRI findings | European Journal of Pediatrics | 2008 | 52 |
| 41 | Frequency and risk factors of gastric and duodenal ulcers or erosions in children: a prospective 1-month European multicenter study | European Journal of Gastroenterology and Hepatology | 2010 | 52 |
| 42 | Reduced Nocturnal Blood Pressure dip and Sustained Nighttime Hypertension are Specific Markers of Secondary Hypertension | Journal of Pediatrics | 2005 | 51 |
| 43 | Evaluation of faecal calprotectin as a valuable non‐invasive marker in distinguishing gut pathogens in young children with acute gastroenteritis | Acta Paediatrica, International Journal of Paediatrics | 2010 | 51 |
| 44 | Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome | Haematologica | 2016 | 51 |
| 45 | Improved control of hypertension in children after renal transplantation: Results of a two-yr interventional trial | Pediatric Transplantation | 2007 | 50 |
| 46 | Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations | Pediatric Diabetes | 2010 | 50 |
| 47 | Natural history of alpha mannosidosis a longitudinal study | Orphanet Journal of Rare Diseases | 2013 | 50 |
| 48 | Nature-derived microbiota exposure as a novel immunomodulatory approach | Future Microbiology | 2018 | 50 |
| 49 | Anti‐inflammatory effects of tetrahydrobiopterin on early rejection in renal allografts: modulation of inducible nitric oxide synthase | FASEB Journal | 2002 | 48 |
| 50 | High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH | Journal of Clinical Endocrinology and Metabolism | 2019 | 46 |
