Theo dõi
Sarah Ennis
Sarah Ennis
Email được xác minh tại soton.ac.uk
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
G Thorleifsson, GB Walters, AW Hewitt, G Masson, A Helgason, A DeWan, ...
Nature genetics 42 (10), 906-909, 2010
4732010
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya, A Mirshahi, ...
Nature genetics 45 (2), 155-163, 2013
3672013
Vitrectomy outcomes in eyes with diabetic macular edema and vitreomacular traction
Diabetic Retinopathy Clinical Research Network
Ophthalmology 117 (6), 1087, 2010
3442010
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis
C Gast, RJ Pengelly, M Lyon, DJ Bunyan, EG Seaby, N Graham, ...
Nephrology Dialysis Transplantation 31 (6), 961-970, 2016
3022016
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
PG Hysi, CY Cheng, H Springelkamp, S Macgregor, JNC Bailey, ...
Nature genetics 46 (10), 1126-1130, 2014
2672014
The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis
N Maniatis, A Collins, CF Xu, LC McCarthy, DR Hewett, W Tapper, ...
Proceedings of the National Academy of Sciences 99 (4), 2228-2233, 2002
2282002
A systematic review of the applications of artificial intelligence and machine learning in autoimmune diseases
IS Stafford, M Kellermann, E Mossotto, RM Beattie, BD MacArthur, S Ennis
NPJ digital medicine 3 (1), 30, 2020
2172020
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
S Ennis, D Ward, A Murray
European Journal of Human Genetics 14 (2), 253-255, 2006
1932006
Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study
S Ennis, C Jomary, R Mullins, A Cree, X Chen, A MacLeod, S Jones, ...
The Lancet 372 (9652), 1828-1834, 2008
1902008
Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies
GJ McKay, CC Patterson, U Chakravarthy, S Dasari, CC Klaver, ...
Human mutation 32 (12), 1407-1416, 2011
1722011
Classification of paediatric inflammatory bowel disease using machine learning
E Mossotto, JJ Ashton, T Coelho, RM Beattie, BD MacArthur, S Ennis
Scientific reports 7 (1), 2427, 2017
1592017
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients
LE Docherty, S Kabwama, A Lehmann, E Hawke, L Harrison, ...
Diabetologia 56, 758-762, 2013
1562013
Reproductive and menstrual history of females with fragile X expansions
A Murray, S Ennis, F MacSwiney, J Webb, NE Morton
European Journal of Human Genetics 8 (4), 247-252, 2000
1542000
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
K Christodoulou, AE Wiskin, J Gibson, W Tapper, C Willis, NA Afzal, ...
Gut 62 (7), 977-984, 2013
1472013
The optimal measure of allelic association
NE Morton, W Zhang, P Taillon-Miller, S Ennis, PY Kwok, A Collins
Proceedings of the National Academy of Sciences 98 (9), 5217-5221, 2001
1472001
Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
JA Crolla, SA Youings, S Ennis, PA Jacobs
European Journal of Human Genetics 13 (2), 154-160, 2005
1372005
FRAXA and FRAXE: the results of a five year survey
SA Youings, A Murray, N Dennis, S Ennis, C Lewis, N McKechnie, ...
Journal of Medical Genetics 37 (6), 415-421, 2000
1302000
Exome sequencing explained: a practical guide to its clinical application
EG Seaby, RJ Pengelly, S Ennis
Briefings in functional genomics 15 (5), 374-384, 2016
1262016
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
H Springelkamp, R Höhn, A Mishra, PG Hysi, CC Khor, SJ Loomis, ...
Nature communications 5 (1), 4883, 2014
1202014
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people
GJ McKay, G Silvestri, U Chakravarthy, S Dasari, LG Fritsche, BH Weber, ...
American journal of epidemiology 173 (12), 1357-1364, 2011
1182011
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