| # | Title | Journal | Year | Citations |
|---|
| 1 | Updated International Consensus Diagnostic Criteria for Eosinophilic Esophagitis: Proceedings of the AGREE Conference | Gastroenterology | 2018 | 712 |
| 2 | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 | Nature Genetics | 2013 | 589 |
| 3 | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment | Nature Genetics | 2008 | 397 |
| 4 | Neonatal Abstinence Syndrome After In Utero Exposure to Selective Serotonin Reuptake Inhibitors in Term Infants | JAMA Pediatrics | 2006 | 289 |
| 5 | Interleukin 2 with anti-GD2 antibody ch14.18/CHO (dinutuximab beta) in patients with high-risk neuroblastoma (HR-NBL1/SIOPEN): a multicentre, randomised, phase 3 trial | Lancet Oncology, The | 2018 | 252 |
| 6 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies | Nature Genetics | 2017 | 251 |
| 7 | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy | Nature Genetics | 2015 | 245 |
| 8 | Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy | Annals of Neurology | 2016 | 216 |
| 9 | Outcome of patients with hemoglobinopathies given either cord blood or bone marrow transplantation from an HLA-identical sibling | Blood | 2013 | 210 |
| 10 | Accuracy in Diagnosis of Celiac Disease Without Biopsies in Clinical Practice | Gastroenterology | 2017 | 204 |
| 11 | A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome | American Journal of Human Genetics | 2008 | 199 |
| 12 | Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group | Blood | 2014 | 189 |
| 13 | A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia | American Journal of Human Genetics | 2010 | 172 |
| 14 | Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study | Blood | 2008 | 149 |
| 15 | Markers of survival and metastatic potential in childhood CNS primitive neuro-ectodermal brain tumours: an integrative genomic analysis | Lancet Oncology, The | 2012 | 148 |
| 16 | Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis | Lancet Oncology, The | 2015 | 147 |
| 17 | New insight into calcinosis of juvenile dermatomyositis: A study of composition and treatment | Journal of Pediatrics | 2001 | 144 |
| 18 | Bullous pemphigoid in infancy: Clinical and epidemiologic characteristics | Journal of the American Academy of Dermatology | 2008 | 143 |
| 19 | High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation | Human Mutation | 2015 | 143 |
| 20 | CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy | Blood | 2013 | 142 |
| 21 | Chlorhexidine-Impregnated Dressing for Prevention of Colonization of Central Venous Catheters in Infants and Children | Pediatric Infectious Disease Journal | 2005 | 141 |
| 22 | CNS-PNETs with C19MC amplification and/or LIN28 expression comprise a distinct histogenetic diagnostic and therapeutic entity | Acta Neuropathologica | 2014 | 141 |
| 23 | Nosocomial infections after cardiac surgery in infants and children: incidence and risk factors | Journal of Hospital Infection | 2003 | 135 |
| 24 | PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution | JCI Insight | 2016 | 134 |
| 25 | Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families | Epilepsia | 2004 | 128 |
| 26 | DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis | Nature Immunology | 2016 | 123 |
| 27 | Milk intake and survival in newborn cannabinoid CB1 receptor knockout mice: evidence for a “CB3” receptor | European Journal of Pharmacology | 2003 | 120 |
| 28 | Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16 | Annals of Neurology | 2003 | 120 |
| 29 | Nontuberculous mycobacteria in cystic fibrosis associated with allergic bronchopulmonary aspergillosis and steroid therapy | European Respiratory Journal | 2005 | 120 |
| 30 | Increasing nontuberculous mycobacteria infection in cystic fibrosis | Journal of Cystic Fibrosis | 2015 | 120 |
| 31 | Attention-Deficit Disorders and Epilepsy in Childhood: Incidence, Causative Relations and Treatment Possibilities | Journal of Child Neurology | 2009 | 116 |
| 32 | Inferior vena cava diameter: a useful method for estimation of fluid status in children on haemodialysis | Nephrology Dialysis Transplantation | 2001 | 112 |
| 33 | A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 | American Journal of Human Genetics | 2010 | 111 |
| 34 | Invasive fungal infections in pediatric oncology | Pediatric Blood and Cancer | 2011 | 107 |
| 35 | Malnutrition risk in hospitalized children: use of 3 screening tools in a large European population | American Journal of Clinical Nutrition | 2016 | 106 |
| 36 | Oral Propranolol Therapy for Infantile Hemangiomas Beyond the Proliferation Phase: A Multicenter Retrospective Study | Pediatric Dermatology | 2011 | 99 |
| 37 | A workshop report on the development of the Cow's Milk‐related Symptom Score awareness tool for young children | Acta Paediatrica, International Journal of Paediatrics | 2015 | 99 |
| 38 | Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 | Nature Communications | 2019 | 99 |
| 39 | Three Year IGF-I Treatment of Children with Laron Syndrome | Journal of Pediatric Endocrinology and Metabolism | 1995 | 98 |
| 40 | Oral findings and periodontal status in children, adolescents and young adults suffering from renal failure | Journal of Clinical Periodontology | 2005 | 97 |
| 41 | How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel | American Journal of Medical Genetics, Part A | 2011 | 95 |
| 42 | Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome | Epilepsia | 2015 | 94 |
| 43 | Management of Nontuberculous Mycobacteria-Induced Cervical Lymphadenitis With Observation Alone | Pediatric Infectious Disease Journal | 2008 | 91 |
| 44 | The Essential Role of IGF-I: Lessons from the Long-Term Study and Treatment of Children and Adults with Laron Syndrome | Journal of Clinical Endocrinology and Metabolism | 1999 | 88 |
| 45 | An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis | Journal of Investigative Dermatology | 2006 | 84 |
| 46 | Intranasal administration of the GHRP hexarelin accelerates growth in short children | Clinical Endocrinology | 1995 | 83 |
| 47 | Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease | Blood Cells, Molecules, and Diseases | 2018 | 82 |
| 48 | The predictive potential of molecular detection in the nonmetastatic Ewing family of tumors | Cancer | 2004 | 81 |
| 49 | Endocrine dysfunction and parameters of the metabolic syndrome after bone marrow transplantation during childhood and adolescence | Bone Marrow Transplantation | 2006 | 81 |
| 50 | Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel | Frontiers in Immunology | 2020 | 81 |
