| # | Title | Journal | Year | Citations |
|---|
| 1 | Beyond too little, too late and too much, too soon: a pathway towards evidence-based, respectful maternity care worldwide | Lancet, The | 2016 | 739 |
| 2 | PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity | American Journal of Human Genetics | 2002 | 680 |
| 3 | Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy | Journal of Clinical Endocrinology and Metabolism | 2008 | 343 |
| 4 | Dichotomous effects of VEGF-A on adipose tissue dysfunction | Proceedings of the National Academy of Sciences of the United States of America | 2012 | 337 |
| 5 | Birth Prevalence and Natural History of Congenital Cytomegalovirus Infection in a Highly Seroimmune Population | Clinical Infectious Diseases | 2009 | 231 |
| 6 | Importance of background rates of disease in assessment of vaccine safety during mass immunisation with pandemic H1N1 influenza vaccines | Lancet, The | 2009 | 231 |
| 7 | Absolute and relative adrenal insufficiency in children with septic shock* | Critical Care Medicine | 2005 | 196 |
| 8 | Human cytomegalovirus reinfection is associated with intrauterine transmission in a highly cytomegalovirus-immune maternal population | American Journal of Obstetrics and Gynecology | 2010 | 173 |
| 9 | Time- and Fluid-Sensitive Resuscitation for Hemodynamic Support of Children in Septic Shock | Pediatric Emergency Care | 2008 | 150 |
| 10 | Prevalence of early initiation of breastfeeding and determinants of delayed initiation of breastfeeding: secondary analysis of the WHO Global Survey | Scientific Reports | 2017 | 149 |
| 11 | Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 | American Journal of Human Genetics | 2018 | 144 |
| 12 | Selection of suitable housekeeping genes for expression analysis in glioblastoma using quantitative RT-PCR | BMC Molecular Biology | 2009 | 143 |
| 13 | Is saliva as reliable as urine for detection of cytomegalovirus DNA for neonatal screening of congenital CMV infection? | Journal of Clinical Virology | 2006 | 133 |
| 14 | Differential expression of 12 histone deacetylase (HDAC) genes in astrocytomas and normal brain tissue: class II and IV are hypoexpressed in glioblastomas | BMC Cancer | 2008 | 127 |
| 15 | Congenital Cytomegalovirus Infection as a Cause of Sensorineural Hearing Loss in a Highly Immune Population | Pediatric Infectious Disease Journal | 2011 | 126 |
| 16 | miR‐29b and miR‐125a regulate podoplanin and suppress invasion in glioblastoma | Genes Chromosomes and Cancer | 2010 | 125 |
| 17 | Procalcitonin does discriminate between sepsis and systemic inflammatory response syndrome | Archives of Disease in Childhood | 2005 | 112 |
| 18 | Genomic imbalances associated with mullerian aplasia | Journal of Medical Genetics | 2007 | 110 |
| 19 | Gene expression profile analysis of primary glioblastomas and non-neoplastic brain tissue: identification of potential target genes by oligonucleotide microarray and real-time quantitative PCR | Journal of Neuro-Oncology | 2008 | 109 |
| 20 | Longitudinal evaluation of the development of salivary cortisol circadian rhythm in infancy | Clinical Endocrinology | 1996 | 108 |
| 21 | Red Blood Cell Transfusions are Independently Associated with Intra-Hospital Mortality in Very Low Birth Weight Preterm Infants | Journal of Pediatrics | 2011 | 105 |
| 22 | Limits and patterns of cytomegalovirus genomic diversity in humans | Proceedings of the National Academy of Sciences of the United States of America | 2015 | 101 |
| 23 | Pineal melatonin and the innate immune response: the TNF‐α increase after cesarean section suppresses nocturnal melatonin production | Journal of Pineal Research | 2007 | 96 |
| 24 | Importance of timing of risk factors for cerebral oedema during therapy for diabetic ketoacidosis | Archives of Disease in Childhood | 2003 | 95 |
| 25 | Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies | Diabetes | 2003 | 87 |
| 26 | A Core Outcome Set for Pediatric Critical Care* | Critical Care Medicine | 2020 | 86 |
| 27 | Injury switches melatonin production source from endocrine (pineal) to paracrine (phagocytes) – melatonin in human colostrum and colostrum phagocytes | Journal of Pineal Research | 2006 | 84 |
| 28 | Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course | Acta Neuropathologica | 2020 | 83 |
| 29 | Pain and musculoskeletal pain syndromes related to computer and video game use in adolescents | European Journal of Pediatrics | 2006 | 78 |
| 30 | Intranasal Dexmedetomidine for Sedation for Pediatric Computed Tomography Imaging | Journal of Pediatrics | 2015 | 75 |
| 31 | Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome | Human Mutation | 2012 | 74 |
| 32 | Cup or Bottle for Preterm Infants: Effects on Oxygen Saturation, Weight Gain, and Breastfeeding | Journal of Human Lactation | 2002 | 70 |
| 33 | Decreased AIRE Expression and Global Thymic Hypofunction in Down Syndrome | Journal of Immunology | 2011 | 69 |
| 34 | Bronchioloalveolar carcinoma arising in a congenital pulmonary airway malformation in a child: case report with an update of this association | Journal of Pediatric Surgery | 2007 | 68 |
| 35 | Complement Profile in Neonates of Different Gestational Ages | Scandinavian Journal of Immunology | 2014 | 67 |
| 36 | Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry | Pediatric Blood and Cancer | 2015 | 67 |
| 37 | Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care | Genetics in Medicine | 2018 | 67 |
| 38 | Testicular Sertoli cell function in male systemic lupus erythematosus | Rheumatology | 2008 | 64 |
| 39 | Risk factors for wheezing in a subtropical environment | Journal of Allergy and Clinical Immunology | 2004 | 63 |
| 40 | Congenital and perinatal cytomegalovirus infection in infants born to mothers infected with human immunodeficiency virus | Journal of Pediatrics | 1998 | 62 |
| 41 | Inhibition of the Tcf/beta-catenin complex increases apoptosis and impairs adrenocortical tumor cell proliferation and adrenal steroidogenesis | Oncotarget | 2015 | 60 |
| 42 | Gonadal function in adolescents and young women with juvenile systemic lupus erythematosus | Lupus | 2002 | 59 |
| 43 | Transfer of antibodies across the placenta and in breast milk from mothers on intravenous immunoglobulin | Pediatric Allergy and Immunology | 2009 | 59 |
| 44 | Colostrum Ingested during the First Day of Life by Exclusively Breastfed Healthy Newborn Infants | Journal of Pediatrics | 2010 | 58 |
| 45 | Innate immune response is differentially dysregulated between bipolar disease and schizophrenia | Schizophrenia Research | 2015 | 58 |
| 46 | Procalcitonin and C-reactive protein kinetics in postoperative pediatric cardiac surgical patients | Journal of Cardiothoracic and Vascular Anesthesia | 2004 | 57 |
| 47 | Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations | Journal of Neurology | 2009 | 57 |
| 48 | Interleukin 18 as a marker of disease activity and severity in patients with juvenile idiopathic arthritis | Journal of Rheumatology | 2007 | 57 |
| 49 | Risk stratification in neonates and infants submitted to cardiac surgery with cardiopulmonary bypass: A multimarker approach combining inflammatory mediators, N-terminal pro-B-type natriuretic peptide and troponin I | Cytokine | 2008 | 56 |
| 50 | Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease | Annals of the Rheumatic Diseases | 2015 | 56 |
