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Katherine Rose Smith
Katherine Rose Smith
Verified email at astrazeneca.com
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Cited by
Cited by
Year
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
7182011
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
4982012
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
4322007
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
4062018
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
4012012
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
3592021
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
3582010
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
3142019
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
3002009
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
2482009
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
2362021
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
2092014
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
1992019
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
1952007
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
1902009
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
1902008
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
190*2008
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
1862011
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
1822019
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
1612008
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Articles 1–20