| # | Title | Journal | Year | Citations |
|---|
| 1 | Neurological associations of COVID-19 | Lancet Neurology, The | 2020 | 1,550 |
| 2 | Clinical features and management of human monkeypox: a retrospective observational study in the UK | Lancet Infectious Diseases, The | 2022 | 763 |
| 3 | Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature | Nature Genetics | 2012 | 712 |
| 4 | Using the Delphi Technique to Determine Which Outcomes to Measure in Clinical Trials: Recommendations for the Future Based on a Systematic Review of Existing Studies | PLoS Medicine | 2011 | 624 |
| 5 | Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response | Nature Genetics | 2009 | 610 |
| 6 | Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation | Journal of Pediatrics | 2017 | 572 |
| 7 | Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling | Nature Genetics | 2014 | 490 |
| 8 | Ethnic differences in burn mechanism and severity in a UK paediatric population | Burns | 2012 | 482 |
| 9 | Risk stratification of childhood medulloblastoma in the molecular era: the current consensus | Acta Neuropathologica | 2016 | 478 |
| 10 | Clinical characteristics of children and young people admitted to hospital with covid-19 in United Kingdom: prospective multicentre observational cohort study | BMJ, The | 2020 | 478 |
| 11 | Germline mutations in RAD51D confer susceptibility to ovarian cancer | Nature Genetics | 2011 | 460 |
| 12 | 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 |
| 13 | Safety and efficacy of buccal midazolam versus rectal diazepam for emergency treatment of seizures in children: a randomised controlled trial | Lancet, The | 2005 | 404 |
| 14 | Physical, cognitive, and mental health impacts of COVID-19 after hospitalisation (PHOSP-COVID): a UK multicentre, prospective cohort study | Lancet Respiratory Medicine,the | 2021 | 394 |
| 15 | Bronchiolitis | Lancet, The | 2006 | 381 |
| 16 | Use of "off-label" and unlicensed drugs in paediatric intensive care unit | Lancet, The | 1996 | 377 |
| 17 | Intensive care admissions of children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in the UK: a multicentre observational study | The Lancet Child and Adolescent Health | 2020 | 352 |
| 18 | DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome | Journal of Medical Genetics | 2011 | 312 |
| 19 | Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project | Genetics in Medicine | 2011 | 308 |
| 20 | Interventions for common perinatal mental disorders in women in low- and middle-income countries: a systematic review and meta-analysis | Bulletin of the World Health Organization | 2013 | 285 |
| 21 | Safety, tolerability and viral kinetics during SARS-CoV-2 human challenge in young adults | Nature Medicine | 2022 | 281 |
| 22 | Unlicensed and off label drug use in paediatric wards: prospective study | BMJ: British Medical Journal | 1998 | 275 |
| 23 | Infrared ear thermometry compared with rectal thermometry in children: a systematic review | Lancet, The | 2002 | 257 |
| 24 | Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus | Nature Genetics | 2012 | 234 |
| 25 | A national consensus management pathway for paediatric inflammatory multisystem syndrome temporally associated with COVID-19 (PIMS-TS): results of a national Delphi process | The Lancet Child and Adolescent Health | 2021 | 228 |
| 26 | Repeat administration of DNA/liposomes to the nasal epithelium of patients with cystic fibrosis | Gene Therapy | 2000 | 226 |
| 27 | The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy | European Journal of Paediatric Neurology | 2010 | 219 |
| 28 | Adverse drug reactions to unlicensed and off-label drugs on paediatric wards: a prospective study | Acta Paediatrica, International Journal of Paediatrics | 1999 | 216 |
| 29 | Randomised, Placebo-Controlled Study of Vigabatrin as First-Line Treatment of Infantile Spasms | Epilepsia | 1999 | 214 |
| 30 | Abandonment of treatment for childhood cancer: position statement of a SIOP PODC Working Group | Lancet Oncology, The | 2011 | 208 |
| 31 | Temperature measured at the axilla compared with rectum in children and young people: systematic review | BMJ: British Medical Journal | 2000 | 207 |
| 32 | Neurological deterioration in young adults with phenylketonuria | Lancet, The | 1990 | 201 |
| 33 | Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management | Kidney International | 2017 | 201 |
| 34 | Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations | PLoS Genetics | 2010 | 198 |
| 35 | Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) | Clinical Endocrinology | 2016 | 196 |
| 36 | Twenty-first Century Trends in the Global Epidemiology of Pediatric-Onset Inflammatory Bowel Disease: Systematic Review | Gastroenterology | 2022 | 192 |
| 37 | The problem of treatment abandonment in children from developing countries with cancer | Pediatric Blood and Cancer | 2007 | 190 |
| 38 | Assessment of UK practice for management of acute childhood idiopathic thrombocytopenic purpura against published guidelines | Lancet, The | 1997 | 189 |
| 39 | Autism screening and diagnosis in low resource settings: Challenges and opportunities to enhance research and services worldwide | Autism Research | 2015 | 189 |
| 40 | Pelvic Hydronephrosis in Children: A Review of 219 Personal Cases | Journal of Urology | 1977 | 188 |
| 41 | A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1 | American Journal of Human Genetics | 1998 | 188 |
| 42 | Paediatric Gastrointestinal Endoscopy | Journal of Pediatric Gastroenterology and Nutrition | 2017 | 186 |
| 43 | Consensus-based recommendations for the management of juvenile dermatomyositis | Annals of the Rheumatic Diseases | 2017 | 185 |
| 44 | Seizures and Encephalitis in Myelin Oligodendrocyte Glycoprotein IgG Disease vs Aquaporin 4 IgG Disease | JAMA Neurology | 2018 | 184 |
| 45 | The EuroMyositis registry: an international collaborative tool to facilitate myositis research | Annals of the Rheumatic Diseases | 2018 | 183 |
| 46 | Core outcomes for adult burn survivors: A clinical overview | Burns | 2009 | 180 |
| 47 | Global respiratory syncytial virus-associated mortality in young children (RSV GOLD): a retrospective case series | The Lancet Global Health | 2017 | 180 |
| 48 | Predictive value of skull radiography for intracranial injury in children with blunt head injury | Lancet, The | 1997 | 175 |
| 49 | Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 | American Journal of Human Genetics | 2014 | 171 |
| 50 | Comparison of protocols and registry entries to published reports for randomised controlled trials | The Cochrane Library | 2011 | 166 |
