Katherine Rose Smith
Katherine Rose Smith
Genomics England
Verified email at genomicsengland.co.uk
TitleCited byYear
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
4202011
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
3392007
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
2912010
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
2742012
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
2442009
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
2362012
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
1442009
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
1212007
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
1202011
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
1202008
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
1102009
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
1102008
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
110*2008
Prenatal probiotic administration can influence Bifidobacterium microbiota development in infants at high risk of allergy
SJ Lahtinen, RJ Boyle, S Kivivuori, F Oppedisano, KR Smith, ...
Journal of Allergy and Clinical Immunology 123 (2), 499-501. e8, 2009
912009
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
902014
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
KR Smith, HHM Dahl, L Canafoglia, E Andermann, J Damiano, M Morbin, ...
Human molecular genetics 22 (7), 1417-1423, 2013
882013
The 100000 Genomes Project: bringing whole genome sequencing to the NHS
C Turnbull, RH Scott, E Thomas, L Jones, N Murugaesu, FB Pretty, ...
BMJ: British Medical Journal (Online) 361, 2018
772018
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
KR Smith, CJ Bromhead, MS Hildebrand, AE Shearer, PJ Lockhart, ...
Genome Biology 12 (9), R85, 2011
772011
Mutation analysis of PIK3CA and PIK3CB in esophageal cancer and Barrett's esophagus
WA Phillips, SE Russell, ML Ciavarella, DYH Choong, KG Montgomery, ...
International journal of cancer 118 (10), 2644-2646, 2006
732006
Importance of volume and concentration for ropivacaine interscalene block in preventing recovery room pain and minimizing motor block after shoulder surgery
MJ Fredrickson, KR Smith, AC Wong
Anesthesiology 112 (6), 1374, 2010
722010
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Articles 1–20