| # | Title | Journal | Year | Citations |
|---|
| 1 | ESPGHAN Revised Porto Criteria for the Diagnosis of Inflammatory Bowel Disease in Children and Adolescents | Journal of Pediatric Gastroenterology and Nutrition | 2014 | 961 |
| 2 | De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes | Nature Genetics | 2012 | 621 |
| 3 | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 | Nature Genetics | 2013 | 589 |
| 4 | Common variants at five new loci associated with early-onset inflammatory bowel disease | Nature Genetics | 2009 | 459 |
| 5 | Meigs’ syndrome: | European Journal of Obstetrics, Gynecology and Reproductive Biology | 2000 | 427 |
| 6 | Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus | American Journal of Human Genetics | 2001 | 316 |
| 7 | How I treat thalassemia | Blood | 2011 | 301 |
| 8 | Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients | American Journal of Medical Genetics Part A | 2001 | 290 |
| 9 | Intravenous Immunoglobulin: Adverse Effects and Safe Administration | Clinical Reviews in Allergy and Immunology | 2005 | 276 |
| 10 | The Medical Management of Paediatric Crohn’s Disease: an ECCO-ESPGHAN Guideline Update | Journal of Crohn's and Colitis | 2021 | 265 |
| 11 | Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Nature Genetics | 2010 | 261 |
| 12 | CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia | European Journal of Human Genetics | 2005 | 216 |
| 13 | Partial Enteral Nutrition with a Crohnʼs Disease Exclusion Diet Is Effective for Induction of Remission in Children and Young Adults with Crohnʼs Disease | Inflammatory Bowel Diseases | 2014 | 211 |
| 14 | Novel Biomarkers in Autoimmune Diseases | Annals of the New York Academy of Sciences | 2007 | 204 |
| 15 | Mathematical weighting of the pediatric Crohnʼs disease activity index (PCDAI) and comparison with its other short versions | Inflammatory Bowel Diseases | 2012 | 203 |
| 16 | Biologic therapy for autoimmune diseases: an update | BMC Medicine | 2013 | 202 |
| 17 | Prolactin and autoimmunity | Autoimmunity Reviews | 2012 | 187 |
| 18 | Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families | Genome Biology | 2011 | 183 |
| 19 | The Prevalence Rate and Anatomic Location of Colorectal Adenoma and Cancer Detected by Colonoscopy in Average-Risk Individuals Aged 40-80 Years | American Journal of Gastroenterology | 2006 | 177 |
| 20 | Increased body mass indexper se is not a predictor of difficult laryngoscopy | Canadian Journal of Anaesthesia | 2003 | 163 |
| 21 | Drug-induced lupus: An update | Autoimmunity Reviews | 2010 | 162 |
| 22 | Hyperprolactinemia and autoimmune diseases | Autoimmunity Reviews | 2007 | 157 |
| 23 | Cranberry Juice and Urinary Tract Infection | Clinical Infectious Diseases | 2004 | 153 |
| 24 | The Incidence of Class “Zero” Airway and the Impact of Mallampati Score, Age, Sex, and Body Mass Index on Prediction of Laryngoscopy Grade | Anesthesia and Analgesia | 2001 | 151 |
| 25 | Early onset epileptic encephalopathy caused by de novo SCN8A mutations | Epilepsia | 2014 | 142 |
| 26 | A host-protein based assay to differentiate between bacterial and viral infections in preschool children (OPPORTUNITY): a double-blind, multicentre, validation study | Lancet Infectious Diseases, The | 2017 | 137 |
| 27 | Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy | American Journal of Human Genetics | 2010 | 131 |
| 28 | Dietary Therapy With the Crohn’s Disease Exclusion Diet is a Successful Strategy for Induction of Remission in Children and Adults Failing Biological Therapy | Journal of Crohn's and Colitis | 2017 | 128 |
| 29 | National Multicenter Study of Predictors and Outcomes of Bacteremia upon Hospital Admission Caused by Enterobacteriaceae Producing Extended-Spectrum β-Lactamases | Antimicrobial Agents and Chemotherapy | 2010 | 125 |
| 30 | Fasting Until Noon Triggers Increased Postprandial Hyperglycemia and Impaired Insulin Response After Lunch and Dinner in Individuals With Type 2 Diabetes: A Randomized Clinical Trial | Diabetes Care | 2015 | 124 |
| 31 | Seroma after laparoscopic repair of hernia with PTFE patch: is it really a complication? | Hernia: the Journal of Hernias and Abdominal Wall Surgery | 2001 | 123 |
| 32 | Insulin pump therapy vs. multiple daily injections in obese Type 2 diabetic patients | Diabetic Medicine | 2005 | 123 |
| 33 | Appraisal of the Pediatric Crohn's Disease Activity Index on Four Prospectively Collected Datasets: Recommended Cutoff Values and Clinimetric Properties | American Journal of Gastroenterology | 2010 | 122 |
| 34 | Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion | Human Mutation | 2003 | 121 |
| 35 | Influences of Breakfast on Clock Gene Expression and Postprandial Glycemia in Healthy Individuals and Individuals With Diabetes: A Randomized Clinical Trial | Diabetes Care | 2017 | 119 |
| 36 | Hyperacusis: Review and Clinical Guidelines | Otology and Neurotology | 2001 | 117 |
| 37 | Emergency care of patients receiving non-vitamin K antagonist oral anticoagulants | British Journal of Anaesthesia | 2018 | 115 |
| 38 | Efficacy and safety of a prothrombin complex concentrate (Octaplex®) for rapid reversal of oral anticoagulation | Thrombosis Research | 2004 | 113 |
| 39 | Developmental coordination disorder in children with attention‐deficit–hyperactivity disorder and physical therapy intervention | Developmental Medicine and Child Neurology | 2007 | 110 |
| 40 | Combined Thermo-Chemotherapy for Recurrent Bladder Cancer After Bacillus Calmette-Guerin | Journal of Urology | 2009 | 109 |
| 41 | Glycemic Effects of Moderate Alcohol Intake Among Patients With Type 2 Diabetes | Diabetes Care | 2007 | 105 |
| 42 | Clinical, Socioeconomic, and Lifestyle Parameters Associated With Erectile Dysfunction Among Diabetic Men | Diabetes Care | 2005 | 102 |
| 43 | De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy | Annals of Clinical and Translational Neurology | 2015 | 96 |
| 44 | Estradiol supplementation during the luteal phase may improve the pregnancy rate in patients undergoing in vitro fertilization-embryo transfer cycles | Fertility and Sterility | 2000 | 95 |
| 45 | Prenatal diagnosis of malformations of cortical development by dedicated neurosonography | Ultrasound in Obstetrics and Gynecology | 2007 | 94 |
| 46 | Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome | Epilepsia | 2015 | 94 |
| 47 | Evidence for a tinnitus subgroup responsive to somatosensory based treatment modalities | Progress in Brain Research | 2007 | 84 |
| 48 | The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings | Clinical Genetics | 2003 | 83 |
| 49 | Effects of Enteral Nutrition on Crohn’s Disease | Inflammatory Bowel Diseases | 2013 | 82 |
| 50 | Imaging of Fetal Cytomegalovirus Infection | Fetal Diagnosis and Therapy | 2011 | 79 |
