| # | Title | Journal | Year | Citations |
|---|
| 1 | Can Treatment Adherence Be Improved by Using Rubin's Four Tendencies Framework to Understand a Patient's Response to Expectations | Biomedicine Hub | 2017 | 2,630 |
| 2 | Human Hypertension Caused by Mutations in WNK Kinases | Science | 2001 | 1,344 |
| 3 | Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg 2+ Resorption | Science | 1999 | 1,042 |
| 4 | PIM2: a revised version of the Paediatric Index of Mortality | Intensive Care Medicine | 2003 | 973 |
| 5 | Neurodevelopmental outcome at 2 years of age after general anaesthesia and awake-regional anaesthesia in infancy (GAS): an international multicentre, randomised controlled trial | Lancet, The | 2016 | 865 |
| 6 | Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III | Nature Genetics | 1997 | 812 |
| 7 | EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome | Nature Genetics | 2000 | 733 |
| 8 | The STROCSS statement: Strengthening the Reporting of Cohort Studies in Surgery | International Journal of Surgery | 2017 | 727 |
| 9 | Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature | Nature Genetics | 2012 | 712 |
| 10 | European Resuscitation Council Guidelines for Resuscitation 2015 | Resuscitation | 2015 | 696 |
| 11 | European Resuscitation Council Guidelines for Resuscitation 2010 Section 8. Cardiac arrest in special circumstances: Electrolyte abnormalities, poisoning, drowning, accidental hypothermia, hyperthermia, asthma, anaphylaxis, cardiac surgery, trauma, pregnancy, electrocution | Resuscitation | 2010 | 691 |
| 12 | Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness | Nature Genetics | 1999 | 633 |
| 13 | Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation | Lancet, The | 2004 | 615 |
| 14 | Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response | Nature Genetics | 2009 | 610 |
| 15 | Allogeneic cytotoxic T-cell therapy for EBV-positive posttransplantation lymphoproliferative disease: results of a phase 2 multicenter clinical trial | Blood | 2007 | 584 |
| 16 | The definition of acute kidney injury and its use in practice | Kidney International | 2015 | 517 |
| 17 | GATA3 haplo-insufficiency causes human HDR syndrome | Nature | 2000 | 516 |
| 18 | The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation | Haemophilia | 2004 | 516 |
| 19 | Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure | Nature Genetics | 2001 | 510 |
| 20 | Addressing liver disease in the UK: a blueprint for attaining excellence in health care and reducing premature mortality from lifestyle issues of excess consumption of alcohol, obesity, and viral hepatitis | Lancet, The | 2014 | 492 |
| 21 | Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia | Orphanet Journal of Rare Diseases | 2014 | 482 |
| 22 | Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update | Molecular Genetics and Metabolism | 2012 | 465 |
| 23 | The complete European guidelines on phenylketonuria: diagnosis and treatment | Orphanet Journal of Rare Diseases | 2017 | 463 |
| 24 | Emergence and spread of a human-transmissible multidrug-resistant nontuberculous mycobacterium | Science | 2016 | 462 |
| 25 | Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 | American Journal of Medical Genetics, Part A | 2015 | 447 |
| 26 | Dual-Energy X-Ray Absorptiometry Interpretation and Reporting in Children and Adolescents: The Revised 2013 ISCD Pediatric Official Positions | Journal of Clinical Densitometry | 2014 | 444 |
| 27 | Diagnosis of Nonalcoholic Fatty Liver Disease in Children and Adolescents | Journal of Pediatric Gastroenterology and Nutrition | 2012 | 405 |
| 28 | Safety and efficacy of buccal midazolam versus rectal diazepam for emergency treatment of seizures in children: a randomised controlled trial | Lancet, The | 2005 | 404 |
| 29 | Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing | Nature Genetics | 2000 | 368 |
| 30 | Paediatric Index of Mortality 3 | Pediatric Critical Care Medicine | 2013 | 363 |
| 31 | A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO | British Journal of Haematology | 2006 | 339 |
| 32 | Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease | Journal of Cystic Fibrosis | 2011 | 332 |
| 33 | Endoscopic Third Ventriculostomy in the Treatment of Childhood Hydrocephalus | Journal of Pediatrics | 2009 | 317 |
| 34 | Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome | Pediatric Nephrology | 2009 | 315 |
| 35 | Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome | Nature Genetics | 2004 | 313 |
| 36 | Intestinal Failure–Associated Liver Disease: What Do We Know Today? | Gastroenterology | 2006 | 312 |
| 37 | DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome | Journal of Medical Genetics | 2011 | 312 |
| 38 | Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease | JAMA Neurology | 2018 | 306 |
| 39 | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia | Nature Genetics | 2002 | 297 |
| 40 | The value of allogeneic bone marrow transplant in patients with acute myeloid leukaemia at differing risk of relapse: results of the UK MRC AML 10 trial | British Journal of Haematology | 2002 | 295 |
| 41 | Should paediatric intensive care be centralised? Trent versus Victoria | Lancet, The | 1997 | 292 |
| 42 | Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study | Lancet Neurology, The | 2014 | 291 |
| 43 | The monoamine neurotransmitter disorders: an expanding range of neurological syndromes | Lancet Neurology, The | 2011 | 290 |
| 44 | Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome | European Journal of Human Genetics | 2005 | 284 |
| 45 | Progressive histological damage in liver allografts following pediatric liver transplantation | Hepatology | 2006 | 280 |
| 46 | How practical are recommendations for dietary control in phenylketonuria? | Lancet, The | 2002 | 278 |
| 47 | Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study | Lancet, The | 2007 | 277 |
| 48 | Key European guidelines for the diagnosis and management of patients with phenylketonuria | Lancet Diabetes and Endocrinology,the | 2017 | 272 |
| 49 | PPIB Mutations Cause Severe Osteogenesis Imperfecta | American Journal of Human Genetics | 2009 | 257 |
| 50 | Congenitally corrected transposition of the great arteries: Morphologic study of 32 cases | American Journal of Cardiology | 1976 | 256 |
