Whole-body hypothermia for term and near-term newborns with hypoxic-ischemic encephalopathy: a randomized controlled trial SE Jacobs, CJ Morley, TE Inder, MJ Stewart, KR Smith, PJ McNamara, ... Archives of Pediatrics and Adolescent Medicine 165 (8), 692, 2011 | 741 | 2011 |
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage KR Smith, J Damiano, S Franceschetti, S Carpenter, L Canafoglia, ... The American Journal of Human Genetics 90 (6), 1102-1107, 2012 | 507 | 2012 |
Preschooler obesity and parenting styles of mothers and fathers: Australian national population study M Wake, JM Nicholson, P Hardy, K Smith Pediatrics 120 (6), e1520-e1527, 2007 | 438 | 2007 |
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS C Turnbull, RH Scott, E Thomas, L Jones, N Murugaesu, FB Pretty, ... Bmj 361, 2018 | 422 | 2018 |
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ... Nature Genetics 44 (11), 1188-1190, 2012 | 413 | 2012 |
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 398 | 2021 |
DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome M Ollikainen, KR Smith, EJH Joo, HK Ng, R Andronikos, B Novakovic, ... Human molecular genetics 19 (21), 4176, 2010 | 359 | 2010 |
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ... Nature genetics, 1-6, 2019 | 358 | 2019 |
Prospects for epigenetic epidemiology DL Foley, JM Craig, R Morley, CJ Olsson, T Dwyer, K Smith, R Saffery American journal of epidemiology 169 (4), 389-400, 2009 | 302 | 2009 |
Rare variant contribution to human disease in 281,104 UK Biobank exomes Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag, I Tachmazidou, ... Nature 597 (7877), 527-532, 2021 | 267 | 2021 |
The prevalence of hypoxaemia among ill children in developing countries: a systematic review R Subhi, M Adamson, H Campbell, M Weber, K Smith, T Duke The Lancet infectious diseases 9 (4), 219-227, 2009 | 254 | 2009 |
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ... Nature genetics 46 (11), 1239-1244, 2014 | 219 | 2014 |
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ... The American Journal of Human Genetics, 2019 | 217 | 2019 |
Pharyngeal pressure with high-flow nasal cannulae in premature infants DJ Wilkinson, CC Andersen, K Smith, J Holberton Journal of Perinatology 28 (1), 42-47, 2007 | 200 | 2007 |
Proximal femoral geometry in cerebral palsy: a population-based cross sectional study J Robin, K Graham, P Selber, F Dobson, K Smith, R Baker Developmental Medicine & Child Neurology 51, 6, 2009 | 195 | 2009 |
Proximal femoral geometry in cerebral palsy: a population-based cross-sectional study J Robin, HK Graham, P Selber, F Dobson, K Smith, R Baker Journal of Bone and Joint Surgery-British Volume 90 (10), 1372, 2008 | 195 | 2008 |
Proximal femoral geometry in cerebral palsy HK Graham, K Smith, R Baker, P Selber, F Dobson, J Robin United Kingdom: British Editorial Society of Bone and Joint Surgery,, 2008 | 195* | 2008 |
Germline selection shapes human mitochondrial DNA diversity W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ... Science 364 (6442), eaau6520, 2019 | 188 | 2019 |
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6 T Arsov, KR Smith, J Damiano, S Franceschetti, L Canafoglia, ... The American Journal of Human Genetics, 2011 | 187 | 2011 |
IV acetaminophen pharmacokinetics in neonates after multiple doses GM Palmer, M Atkins, BJ Anderson, KR Smith, TJ Culnane, CM McNally, ... British journal of anaesthesia 101 (4), 523, 2008 | 161 | 2008 |