| # | Title | Journal | Year | Citations |
|---|
| 1 | Nosology and classification of genetic skeletal disorders: 2015 revision | American Journal of Medical Genetics, Part A | 2015 | 453 |
| 2 | Mutations in dynamin 2 cause dominant centronuclear myopathy | Nature Genetics | 2005 | 390 |
| 3 | Long-term effects of neonatal hypoglycemia on brain growth and psychomotor development in small-for-gestational-age preterm infants | Journal of Pediatrics | 1999 | 241 |
| 4 | Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus | Nature Genetics | 2012 | 234 |
| 5 | Myelin/oligodendrocyte glycoprotein is a unique member of the immunoglobulin superfamily | Journal of Neuroscience Research | 1992 | 228 |
| 6 | Hepatic veno-occlusive disease in newborn infant of a woman drinking herbal tea | Journal of Pediatrics | 1988 | 218 |
| 7 | Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities | JAMA Psychiatry | 2016 | 195 |
| 8 | Skin Colonization by Staphylococcus aureus Precedes the Clinical Diagnosis of Atopic Dermatitis in Infancy | Journal of Investigative Dermatology | 2017 | 185 |
| 9 | Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity | Nature Genetics | 2011 | 151 |
| 10 | A Th17- and Th2-skewed Cytokine Profile in Cystic Fibrosis Lungs Represents a Potential Risk Factor for Pseudomonas aeruginosa Infection | American Journal of Respiratory and Critical Care Medicine | 2013 | 151 |
| 11 | Renal function in respiratory distress syndrome | Journal of Pediatrics | 1976 | 139 |
| 12 | Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production | Journal of Allergy and Clinical Immunology | 2013 | 127 |
| 13 | FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development | American Journal of Human Genetics | 2013 | 114 |
| 14 | Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders | American Journal of Human Genetics | 2013 | 112 |
| 15 | Functional independence within the self-memory system: New insights from two cases of developmental amnesia | Cortex | 2013 | 103 |
| 16 | Fetal programming of pulmonary vascular dysfunction in mice: role of epigenetic mechanisms | American Journal of Physiology - Heart and Circulatory Physiology | 2011 | 100 |
| 17 | Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections | Genetics in Medicine | 2017 | 94 |
| 18 | Prospective monitoring of cefepime in intensive care unit adult patients | Critical Care | 2010 | 93 |
| 19 | Allergy to betalactam antibiotics in children: a prospective follow-up study in retreated children after negative responses in skin and challenge tests | Allergy: European Journal of Allergy and Clinical Immunology | 2007 | 91 |
| 20 | Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP | American Journal of Human Genetics | 2011 | 88 |
| 21 | Renal Function in the Newborn Infant | Pediatric Clinics of North America | 1982 | 86 |
| 22 | Escalating incidence of eosinophilic esophagitis in Canton of Vaud, Switzerland, 1993–2013: a population‐based study | Allergy: European Journal of Allergy and Clinical Immunology | 2015 | 86 |
| 23 | Defining challenge-proven coexistent nut and sesame seed allergy: A prospective multicenter European study | Journal of Allergy and Clinical Immunology | 2020 | 85 |
| 24 | Prolonged Intermittent Drooling and Oromotor Dyspraxia in Benign Childhood Epilepsy with Centrotemporal Spikes | Epilepsia | 1989 | 77 |
| 25 | Early Diagnosis and Evolution of Deafness in Childhood Bacterial Meningitis: A Study Using Brainstem Auditory Evoked Potentials | Pediatrics | 1984 | 77 |
| 26 | Bovine Valved Xenograft in Pulmonary Position: Medium-Term Follow-Up With Excellent Hemodynamics and Freedom From Calcification | Annals of Thoracic Surgery | 2004 | 76 |
| 27 | Impact of Disease and Treatments on Growth and Puberty of Pediatric Patients with Inflammatory Bowel Disease | Digestion | 2012 | 76 |
| 28 | The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 2012 | 74 |
| 29 | Comparison of the glomerular filtration rate in children by the new revised Schwartz formula and a new generalized formula | Kidney International | 2013 | 73 |
| 30 | CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome | Proceedings of the National Academy of Sciences of the United States of America | 2013 | 73 |
| 31 | Renal Function in the Tiny, Premature Infant | Clinics in Perinatology | 1986 | 70 |
| 32 | Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome | Scientific Reports | 2015 | 70 |
| 33 | A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies | Human Molecular Genetics | 2015 | 70 |
| 34 | How Do Physicians Immunize Their Own Children? Differences Among Pediatricians and Nonpediatricians | Pediatrics | 2005 | 68 |
| 35 | Impact of severe epilepsy on development: Recovery potential after successful early epilepsy surgery | Epilepsia | 2010 | 67 |
| 36 | NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina | American Journal of Medical Genetics, Part A | 2015 | 66 |
| 37 | Imaging of cavitary necrosis in complicated childhood pneumonia | European Radiology | 2002 | 64 |
| 38 | Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome | American Journal of Medical Genetics, Part A | 2015 | 61 |
| 39 | Involvement of the CXCR7/CXCR4/CXCL12 Axis in the Malignant Progression of Human Neuroblastoma | PLoS ONE | 2012 | 58 |
| 40 | Moderate postnatal hyperoxia accelerates lung growth and attenuates pulmonary hypertension in infant rats after exposure to intra-amniotic endotoxin | American Journal of Physiology - Lung Cellular and Molecular Physiology | 2010 | 57 |
| 41 | Burden of severe RSV disease among immunocompromised children and adults: a 10 year retrospective study | BMC Infectious Diseases | 2018 | 55 |
| 42 | IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation | Journal of Allergy and Clinical Immunology | 2016 | 54 |
| 43 | Continuous monitoring and quantification of multiple parameters of daily physical activity in ambulatory Duchenne muscular dystrophy patients | European Journal of Paediatric Neurology | 2011 | 52 |
| 44 | The adverse renal effects of prostaglandin-synthesis inhibitors in the newborn rabbit | Seminars in Perinatology | 2002 | 49 |
| 45 | Ictal bradycardia in a young child with focal cortical dysplasia in the right insular cortex | European Journal of Paediatric Neurology | 2003 | 48 |
| 46 | One-year survival and neurological outcome after pediatric cardiopulmonary resuscitation | Intensive Care Medicine | 2002 | 45 |
| 47 | Lipschütz’s acute vulvar ulcer: a systematic review | European Journal of Pediatrics | 2020 | 45 |
| 48 | Secular trends in blood pressure in children: A systematic review | Journal of Clinical Hypertension | 2017 | 43 |
| 49 | Urinary Tract Infection in High-Risk Newborn Infants | Pediatrics | 1978 | 43 |
| 50 | Inhibition of glial cell proinflammatory activities by peroxisome proliferator-activated receptor gamma agonist confers partial protection during antimyelin oligodendrocyte glycoprotein demyelination in vitro | Journal of Neuroscience Research | 2003 | 42 |
