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Sian Ellard
Sian Ellard
Professor of Genomic Medicine, University of Exeter
在 nhs.net 的电子邮件经过验证
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A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
TM Frayling, NJ Timpson, MN Weedon, E Zeggini, RM Freathy, ...
Science 316 (5826), 889-894, 2007
56372007
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
E Zeggini, MN Weedon, CM Lindgren, TM Frayling, KS Elliott, H Lango, ...
Science 316 (5829), 1336-1341, 2007
26182007
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes
AL Gloyn, ER Pearson, JF Antcliff, P Proks, GJ Bruining, AS Slingerland, ...
New England Journal of Medicine 350 (18), 1838-1849, 2004
14572004
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations
ER Pearson, I Flechtner, PR Njølstad, MT Malecki, SE Flanagan, B Larkin, ...
New England Journal of Medicine 355 (5), 467-477, 2006
11852006
Evaluating the effects of SARS-CoV-2 spike mutation D614G on transmissibility and pathogenicity
E Volz, V Hill, JT McCrone, A Price, D Jorgensen, Á O’Toole, J Southgate, ...
Cell 184 (1), 64-75. e11, 2021
10812021
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
BM Shields, S Hicks, MH Shepherd, K Colclough, AT Hattersley, S Ellard
Diabetologia 53, 2504-2508, 2010
8752010
Hospital admission and emergency care attendance risk for SARS-CoV-2 delta (B. 1.617. 2) compared with alpha (B. 1.1. 7) variants of concern: a cohort study
KA Twohig, T Nyberg, A Zaidi, S Thelwall, MA Sinnathamby, S Aliabadi, ...
The Lancet Infectious Diseases 22 (1), 35-42, 2022
8242022
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7672015
Mutations in the glucokinase gene of the fetus result in reduced birth weight
AT Hattersley, F Beards, E Ballantyne, M Appleton, R Harvey, S Ellard
Nature genetics 19 (3), 268-270, 1998
7271998
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
R Murphy, S Ellard, AT Hattersley
Nature clinical practice Endocrinology & metabolism 4 (4), 200-213, 2008
6772008
Insulin gene mutations as a cause of permanent neonatal diabetes
J Støy, EL Edghill, SE Flanagan, H Ye, VP Paz, A Pluzhnikov, JE Below, ...
Proceedings of the National Academy of Sciences 104 (38), 15040-15044, 2007
6762007
Emery's Elements of Medical Genetics: Emery's Elements of Medical Genetics E-Book
PD Turnpenny, S Ellard
Elsevier Health Sciences, 2016
5992016
Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
KK Osbak, K Colclough, C Saint‐Martin, NL Beer, C Bellanné‐Chantelot, ...
Human mutation 30 (11), 1512-1526, 2009
5922009
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
DJG Mackay, JLA Callaway, SM Marks, HE White, CL Acerini, SE Boonen, ...
Nature genetics 40 (8), 949-951, 2008
5802008
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
S Ellard, C Bellanné-Chantelot, AT Hattersley, ...
Diabetologia 51, 546-553, 2008
5612008
Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene
ER Pearson, SF Boj, AM Steele, T Barrett, K Stals, JP Shield, S Ellard, ...
PLoS medicine 4 (4), e118, 2007
5252007
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
SE Flanagan, E Haapaniemi, MA Russell, R Caswell, HL Allen, ...
Nature genetics 46 (8), 812-814, 2014
5162014
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for …
C Pihoker, LK Gilliam, S Ellard, D Dabelea, C Davis, LM Dolan, ...
The Journal of Clinical Endocrinology & Metabolism 98 (10), 4055-4062, 2013
4822013
Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes …
EL Edghill, SE Flanagan, AM Patch, C Boustred, A Parrish, B Shields, ...
Diabetes 57 (4), 1034-1042, 2008
4792008
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
MP Bulman, K Kusumi, TM Frayling, C McKeown, C Garrett, ES Lander, ...
Nature genetics 24 (4), 438-441, 2000
4752000
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