| # | Title | Journal | Year | Citations |
|---|
| 1 | A CD4+T-cell subset inhibits antigen-specific T-cell responses and prevents colitis | Nature | 1997 | 3,342 |
| 2 | High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening* | American Journal of Human Genetics | 2006 | 842 |
| 3 | The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia | Nature Genetics | 1999 | 747 |
| 4 | Relative contribution of iron burden, HFE mutations, and insulin resistance to fibrosis in nonalcoholic fatty liver | Hepatology | 2004 | 394 |
| 5 | Survival and Complications in Thalassemia | Annals of the New York Academy of Sciences | 2005 | 359 |
| 6 | Survival and Disease Complications in Thalassemia Major | Annals of the New York Academy of Sciences | 1998 | 312 |
| 7 | Mutations ofARX are associated with striking pleiotropy and consistent genotype-phenotype correlation | Human Mutation | 2004 | 293 |
| 8 | Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes | PLoS Genetics | 2011 | 293 |
| 9 | Expansion of mesenchymal stem cells isolated from pediatric and adult donor bone marrow | Journal of Cellular Biochemistry | 2006 | 289 |
| 10 | Lactobacillus reuteriDSM 17938 in Infantile Colic: A Randomized, Double-Blind, Placebo-Controlled Trial | Pediatrics | 2010 | 286 |
| 11 | Primary chemotherapy and delayed surgery for nonmetastatic osteosarcoma of the extremities. Results in 164 patients preoperatively treated with high doses of methotrexate followed by cisplatin and doxorubicin | Cancer | 1993 | 285 |
| 12 | Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT | Nature Genetics | 1999 | 280 |
| 13 | Human mesenchymal stem cell transplantation extends survival, improves motor performance and decreases neuroinflammation in mouse model of amyotrophic lateral sclerosis | Neurobiology of Disease | 2008 | 269 |
| 14 | Lactobacillus reuteri (American Type Culture Collection Strain 55730) Versus Simethicone in the Treatment of Infantile Colic: A Prospective Randomized Study | Pediatrics | 2007 | 253 |
| 15 | Preterm Milk Oligosaccharides During the First Month of Lactation | Pediatrics | 2011 | 216 |
| 16 | Relative response of patients with myelodysplastic syndromes and other transfusion‐dependent anaemias to deferasirox (ICL670): a 1‐yr prospective study | European Journal of Haematology | 2008 | 210 |
| 17 | Stem cell treatment in Amyotrophic Lateral Sclerosis | Journal of the Neurological Sciences | 2008 | 205 |
| 18 | The ribosomal basis of diamond-blackfan anemia: mutation and database update | Human Mutation | 2010 | 202 |
| 19 | SOX2anophthalmia syndrome | American Journal of Medical Genetics, Part A | 2005 | 194 |
| 20 | Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity | Clinical Immunology | 2013 | 186 |
| 21 | Younger Age at Onset and Sex Predict Celiac Disease in Children and Adolescents With Type 1 Diabetes: An Italian multicenter study | Diabetes Care | 2004 | 183 |
| 22 | Analyses of prognostic factors in a retrospective review of 92 children with ependymoma: Italian Pediatric Neuro-Oncology Group | Diabetes Care | 1997 | 182 |
| 23 | First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure | American Journal of Human Genetics | 2007 | 182 |
| 24 | Wiskott-Aldrich Syndrome Protein Regulates Lipid Raft Dynamics during Immunological Synapse Formation | Immunity | 2002 | 175 |
| 25 | Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease | Human Mutation | 2008 | 172 |
| 26 | Bovine lactoferrin supplementation for prevention of necrotizing enterocolitis in very-low-birth-weight neonates: a randomized clinical trial | Early Human Development | 2014 | 170 |
| 27 | Increased Risk of Maternal‐Infant Hepatitis C Virus Transmission for Women Coinfected with Human Immunodeficiency Virus Type 1 | Clinical Infectious Diseases | 1997 | 167 |
| 28 | WASP regulates suppressor activity of human and murine CD4+CD25+FOXP3+ natural regulatory T cells | Journal of Experimental Medicine | 2007 | 167 |
| 29 | Incidence of Type 1 and Type 2 Diabetes in Adults Aged 30-49 Years: The population-based registry in the province of Turin, Italy | Diabetes Care | 2005 | 158 |
| 30 | A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP | Journal of Experimental Medicine | 2012 | 158 |
| 31 | Assessment of Cardiac Autonomic Modulation during Adolescent Obesity | Obesity | 2003 | 148 |
| 32 | Long-term results of the Italian Association of Pediatric Hematology and Oncology (AIEOP) Studies 82, 87, 88, 91 and 95 for childhood acute lymphoblastic leukemia | Leukemia | 2010 | 148 |
| 33 | Persistence Rate and Progression of Vertically Acquired Hepatitis C Infection | Journal of Infectious Diseases | 2000 | 139 |
| 34 | High-Dose Chemotherapy in the Treatment of Relapsed Osteosarcoma: An Italian Sarcoma Group Study | Journal of Clinical Oncology | 2002 | 137 |
| 35 | Neural differentiation of human mesenchymal stem cells: evidence for expression of neural markers and eag K+ channel types | Experimental Hematology | 2006 | 134 |
| 36 | Effect of Lactobacillus GG and Breast-feeding in the Prevention of Rotavirus Nosocomial Infection | Journal of Pediatric Gastroenterology and Nutrition | 2002 | 133 |
| 37 | KCNJ11activating mutations in Italian patients with permanent neonatal diabetes | Human Mutation | 2005 | 131 |
| 38 | Prevalence and Natural History of Gastroesophageal Reflux: Pediatric Prospective Survey | Pediatrics | 2009 | 122 |
| 39 | Molecular identification of coliform bacteria from colicky breastfed infants | Acta Paediatrica, International Journal of Paediatrics | 2009 | 121 |
| 40 | Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome | Journal of Pediatrics | 2014 | 119 |
| 41 | A long-term follow-up study of methotrexate in juvenile localized scleroderma (morphea) | Journal of the American Academy of Dermatology | 2012 | 113 |
| 42 | Focus on infantile colic | Acta Paediatrica, International Journal of Paediatrics | 2007 | 111 |
| 43 | 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages | Nature Genetics | 2015 | 108 |
| 44 | Lentiviral Vector-Mediated Gene Transfer in T Cells from Wiskott–Aldrich Syndrome Patients Leads to Functional Correction | Molecular Therapy | 2004 | 106 |
| 45 | Alveolar soft part sarcoma in children and adolescents: A report from the Soft-Tissue Sarcoma Italian Cooperative Group | Annals of Oncology | 2000 | 101 |
| 46 | Outcome of children with neuroblastoma after progression or relapse. A retrospective study of the Italian neuroblastoma registry | European Journal of Cancer | 2009 | 101 |
| 47 | Heart rate variability in childhood obesity | Clinical Autonomic Research | 2001 | 99 |
| 48 | Disseminated neuroblastoma (stage IV and IV-S) in the first year of life. Outcome related to age and stage | Cancer | 1992 | 97 |
| 49 | Langerhans cell histiocytosis in childhood: Results from the Italian cooperative AIEOP-CNR-H.X '83 study | Medical and Pediatric Oncology | 1993 | 97 |
| 50 | Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature | American Journal of Medical Genetics, Part A | 2009 | 97 |
