| # | Title | Journal | Year | Citations |
|---|
| 1 | The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms | Leukemia | 2022 | 1,211 |
| 2 | Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome | Science | 2013 | 900 |
| 3 | The RIFLE criteria and mortality in acute kidney injury: A systematic review | Kidney International | 2008 | 661 |
| 4 | Suggested guidelines for the diagnosis and management of urea cycle disorders | Orphanet Journal of Rare Diseases | 2012 | 596 |
| 5 | PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron | Nature Genetics | 2006 | 497 |
| 6 | Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome | Journal of Pediatrics | 2011 | 481 |
| 7 | An international consensus approach to the management of atypical hemolytic uremic syndrome in children | Pediatric Nephrology | 2016 | 445 |
| 8 | Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders | Brain | 2017 | 426 |
| 9 | Gut Microbiota, Lipopolysaccharides, and Innate Immunity in the Pathogenesis of Obesity and Cardiovascular Risk | Endocrine Reviews | 2010 | 389 |
| 10 | Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene | American Journal of Human Genetics | 2002 | 380 |
| 11 | Monitored Atrial Fibrillation Duration Predicts Arterial Embolic Events in Patients Suffering From Bradycardia and Atrial Fibrillation Implanted With Antitachycardia Pacemakers | Journal of the American College of Cardiology | 2005 | 375 |
| 12 | High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies | American Journal of Human Genetics | 2017 | 337 |
| 13 | Minimal Change Disease | Clinical Journal of the American Society of Nephrology: CJASN | 2017 | 336 |
| 14 | Recommendations on Acute Kidney Injury Biomarkers From the Acute Disease Quality Initiative Consensus Conference | JAMA Network Open | 2020 | 335 |
| 15 | Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome | American Journal of Human Genetics | 2012 | 315 |
| 16 | Childhood spinal muscular atrophy: controversies and challenges | Lancet Neurology, The | 2012 | 297 |
| 17 | Febrile infection-related epilepsy syndrome (FIRES): Pathogenesis, treatment, and outcome | Epilepsia | 2011 | 294 |
| 18 | International consensus conference on stool banking for faecal microbiota transplantation in clinical practice | Gut | 2019 | 290 |
| 19 | TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin | Proceedings of the National Academy of Sciences of the United States of America | 2015 | 282 |
| 20 | International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions | Epilepsia | 2022 | 263 |
| 21 | Immune Activation, Inflammation, and Non-AIDS Co-Morbidities in HIV-Infected Patients under Long-Term ART | Viruses | 2019 | 262 |
| 22 | Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) | Human Molecular Genetics | 1998 | 258 |
| 23 | Leopard syndrome | Orphanet Journal of Rare Diseases | 2008 | 250 |
| 24 | The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability | Neuromuscular Disorders | 2010 | 239 |
| 25 | Left Ventricular Geometry in Children with Mild to Moderate Chronic Renal Insufficiency | Journal of the American Society of Nephrology: JASN | 2006 | 231 |
| 26 | The Nrf2/HO-1 Axis in Cancer Cell Growth and Chemoresistance | Oxidative Medicine and Cellular Longevity | 2016 | 223 |
| 27 | Rationale for pertussis booster vaccination throughout life in Europe | Lancet Infectious Diseases, The | 2011 | 222 |
| 28 | Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal | Journal of Pediatrics | 1999 | 216 |
| 29 | Heart rate variability in healthy children and adolescents is partially related to age and gender | International Journal of Cardiology | 2001 | 206 |
| 30 | Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group | Kidney International | 2018 | 206 |
| 31 | Clinical review: RIFLE and AKIN – time for reappraisal | Critical Care | 2009 | 204 |
| 32 | Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders | American Journal of Human Genetics | 2018 | 204 |
| 33 | ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study | Annals of the Rheumatic Diseases | 2017 | 199 |
| 34 | Conventional Mechanical Ventilation Versus High-frequency Oscillatory Ventilation for Congenital Diaphragmatic Hernia | Annals of Surgery | 2016 | 198 |
| 35 | Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome | JAMA Psychiatry | 2015 | 196 |
| 36 | The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood | Pediatric Research | 2014 | 194 |
| 37 | Close Encounters in a Pediatric Ward: Measuring Face-to-Face Proximity and Mixing Patterns with Wearable Sensors | PLoS ONE | 2011 | 193 |
| 38 | NGF and Its Receptors in the Regulation of Inflammatory Response | International Journal of Molecular Sciences | 2017 | 192 |
| 39 | Impact of a current treatment protocol on outcome of high-risk congenital diaphragmatic hernia | Journal of Pediatric Surgery | 2004 | 191 |
| 40 | Duchenne Muscular Dystrophy: From Diagnosis to Therapy | Molecules | 2015 | 190 |
| 41 | Clinical Outcome of 193 Extracardiac Fontan Patients | Journal of the American College of Cardiology | 2006 | 184 |
| 42 | Has COVID-19 Delayed the Diagnosis and Worsened the Presentation of Type 1 Diabetes in Children? | Diabetes Care | 2020 | 182 |
| 43 | Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy | Pediatric Research | 1990 | 179 |
| 44 | Current Knowledge on Endocrine Disrupting Chemicals (EDCs) from Animal Biology to Humans, from Pregnancy to Adulthood: Highlights from a National Italian Meeting | International Journal of Molecular Sciences | 2018 | 178 |
| 45 | Reliability of the North Star Ambulatory Assessment in a multicentric setting | Neuromuscular Disorders | 2009 | 171 |
| 46 | AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis | Nature Genetics | 2010 | 171 |
| 47 | North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy | Neuromuscular Disorders | 2010 | 171 |
| 48 | Lung–kidney interactions in critically ill patients: consensus report of the Acute Disease Quality Initiative (ADQI) 21 Workgroup | Intensive Care Medicine | 2020 | 161 |
| 49 | Birth Before 39 Weeks' Gestation Is Associated With Worse Outcomes in Neonates With Heart Disease | Pediatrics | 2010 | 160 |
| 50 | Neurologic complications in neonates supported with extracorporeal membrane oxygenation. An analysis of ELSO registry data | Intensive Care Medicine | 2013 | 160 |
