Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature | Nature Genetics | 2012 | 521 |
Bispectral index values during elective rigid bronchoscopy: a prospective observational pilot study | Anaesthesia | 2007 | 514 |
Autism spectrum disorder | Lancet, The | 2018 | 496 |
The standardization of terminology of lower urinary tract function in children and adolescents: update report from the Standardization Committee of the International Children's Continence Society | Journal of Urology | 2014 | 379 |
British Association for Psychopharmacology consensus statement on evidence-based treatment of insomnia, parasomnias and circadian rhythm disorders | Journal of Psychopharmacology | 2010 | 365 |
The standardization of terminology of lower urinary tract function in children and adolescents: Update report from the standardization committee of the International Children's Continence Society | Neurourology and Urodynamics | 2016 | 361 |
Cerebral palsy | Nature Reviews Disease Primers | 2016 | 356 |
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 | 321 |
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction | Nature Genetics | 2013 | 299 |
Cerebral palsy | Lancet, The | 2014 | 292 |
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder | Brain | 2010 | 292 |
European guidelines on managing adverse effects of medication for ADHD | European Child and Adolescent Psychiatry | 2011 | 244 |
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 | American Journal of Human Genetics | 2012 | 225 |
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 | 224 |
Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study | Lancet Neurology, The | 2014 | 220 |
Centronuclear (myotubular) myopathy | Orphanet Journal of Rare Diseases | 2008 | 206 |
BSACI guidelines for the management of chronic urticaria and angio-oedema | Clinical and Experimental Allergy | 2007 | 203 |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis? | Brain | 2014 | 192 |
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy | Nature Genetics | 2013 | 192 |
RYR1 mutations are a common cause of congenital myopathies with central nuclei | Annals of Neurology | 2010 | 192 |
Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement | Europace | 2013 | 190 |
Approach to the diagnosis of congenital myopathies | Neuromuscular Disorders | 2014 | 178 |
Bridging the gap: an integrated paediatric to adult clinical service for young adults with kidney failure | BMJ, The | 2012 | 169 |
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation | Brain | 2013 | 167 |
Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens | Journal of Neurology, Neurosurgery and Psychiatry | 2013 | 164 |