| # | Title | Journal | Year | Citations |
|---|
| 1 | The metabolic syndrome in children and adolescents ? an IDF consensus report | Pediatric Diabetes | 2007 | 1,509 |
| 2 | Gene therapy clinical trials worldwide to 2012 – an update | Journal of Gene Medicine | 2013 | 1,057 |
| 3 | Risk-adapted craniospinal radiotherapy followed by high-dose chemotherapy and stem-cell rescue in children with newly diagnosed medulloblastoma (St Jude Medulloblastoma-96): long-term results from a prospective, multicentre trial | Lancet Oncology, The | 2006 | 811 |
| 4 | Assessment of Physical Activity: An International Perspective | Research Quarterly for Exercise and Sport | 2000 | 746 |
| 5 | Whole-genome landscape of pancreatic neuroendocrine tumours | Nature | 2017 | 716 |
| 6 | ACTN3 Genotype Is Associated with Human Elite Athletic Performance | American Journal of Human Genetics | 2003 | 708 |
| 7 | Consensus statement for inert gas washout measurement using multiple- and single- breath tests | European Respiratory Journal | 2013 | 631 |
| 8 | Skeletal and Extraskeletal Actions of Vitamin D: Current Evidence and Outstanding Questions | Endocrine Reviews | 2019 | 611 |
| 9 | A meta-analysis of cognitive deficits in first-episode Major Depressive Disorder | Journal of Affective Disorders | 2012 | 605 |
| 10 | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 | Nature Genetics | 2013 | 589 |
| 11 | Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry | New England Journal of Medicine | 2003 | 587 |
| 12 | Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment | American Journal of Medical Genetics, Part A | 2014 | 524 |
| 13 | Improving genetic diagnosis in Mendelian disease with transcriptome sequencing | Science Translational Medicine | 2017 | 516 |
| 14 | Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance | Cell | 2010 | 515 |
| 15 | The nature and frequency of cognitive deficits in children with neurofibromatosis type 1 | Neurology | 2005 | 510 |
| 16 | Nocturnal Pulse Oximetry as an Abbreviated Testing Modality for Pediatric Obstructive Sleep Apnea | Pediatrics | 2000 | 496 |
| 17 | Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study | American Journal of Human Genetics | 2007 | 485 |
| 18 | Tacrolimus versus ciclosporin as primary immunosuppression for kidney transplant recipients: meta-analysis and meta-regression of randomised trial data | BMJ: British Medical Journal | 2005 | 482 |
| 19 | ISPAD Clinical Practice Consensus Guidelines 2018: Glycemic control targets and glucose monitoring for children, adolescents, and young adults with diabetes | Pediatric Diabetes | 2018 | 464 |
| 20 | Distinctive patterns of microRNA expression in primary muscular disorders | Proceedings of the National Academy of Sciences of the United States of America | 2007 | 458 |
| 21 | Control of Confounding and Reporting of Results in Causal Inference Studies. Guidance for Authors from Editors of Respiratory, Sleep, and Critical Care Journals | Annals of the American Thoracic Society | 2019 | 458 |
| 22 | Communicating with parents about vaccination: a framework for health professionals | BMC Pediatrics | 2012 | 455 |
| 23 | Nosology and classification of genetic skeletal disorders: 2015 revision | American Journal of Medical Genetics, Part A | 2015 | 453 |
| 24 | Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation | American Journal of Human Genetics | 2007 | 445 |
| 25 | Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis | Nature Genetics | 1999 | 442 |
| 26 | Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) | Nature Genetics | 2011 | 440 |
| 27 | Exercise for type 2 diabetes mellitus | The Cochrane Library | 2006 | 439 |
| 28 | Polyacrylamide gel electrophoresis in a continuous molecular sieve gradient | Analytical Biochemistry | 1968 | 432 |
| 29 | Nosology and classification of genetic skeletal disorders: 2019 revision | American Journal of Medical Genetics, Part A | 2019 | 431 |
| 30 | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome | Nature Genetics | 2010 | 417 |
| 31 | Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation | American Journal of Human Genetics | 2004 | 414 |
| 32 | Is Low Birth Weight an Antecedent of CKD in Later Life? A Systematic Review of Observational Studies | American Journal of Kidney Diseases | 2009 | 406 |
| 33 | Human renal function maturation: a quantitative description using weight and postmenstrual age | Pediatric Nephrology | 2009 | 406 |
| 34 | The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias | Nature Genetics | 2015 | 405 |
| 35 | Dexamethasone as adjunctive therapy in bacterial meningitis. A meta-analysis of randomized clinical trials since 1988 | JAMA - Journal of the American Medical Association | 1997 | 405 |
| 36 | Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy | Nature Genetics | 1999 | 389 |
| 37 | Clinical trials in children | Lancet, The | 2004 | 381 |
| 38 | A common nonsense mutation results in α-actinin-3 deficiency in the general population | Nature Genetics | 1999 | 378 |
| 39 | Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination | Nature Genetics | 2000 | 368 |
| 40 | Sirolimus Is Associated with New-Onset Diabetes in Kidney Transplant Recipients | Journal of the American Society of Nephrology: JASN | 2008 | 365 |
| 41 | Circumcision for the prevention of urinary tract infection in boys: a systematic review of randomised trials and observational studies | Archives of Disease in Childhood | 2005 | 352 |
| 42 | Perinatal transmission of hepatitis B virus: an Australian experience | Medical Journal of Australia | 2009 | 352 |
| 43 | B cell–intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans | Journal of Experimental Medicine | 2010 | 346 |
| 44 | Ex vivo programmed macrophages ameliorate experimental chronic inflammatory renal disease | Kidney International | 2007 | 335 |
| 45 | The Genomic Landscape of the Ewing Sarcoma Family of Tumors Reveals Recurrent STAG2 Mutation | PLoS Genetics | 2014 | 335 |
| 46 | Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis | Journal of Biological Chemistry | 2003 | 333 |
| 47 | Sodium-channel defects in benign familial neonatal-infantile seizures | Lancet, The | 2002 | 332 |
| 48 | GRIN2A mutations cause epilepsy-aphasia spectrum disorders | Nature Genetics | 2013 | 326 |
| 49 | Antiviral medications to prevent cytomegalovirus disease and early death in recipients of solid-organ transplants: a systematic review of randomised controlled trials | Lancet, The | 2005 | 321 |
| 50 | Effects of angiotensin converting enzyme inhibitors and angiotensin II receptor antagonists on mortality and renal outcomes in diabetic nephropathy: systematic review | BMJ: British Medical Journal | 2004 | 318 |
