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Sian Ellard
Sian Ellard
Professor of Genomic Medicine, University of Exeter
Verified email at nhs.net
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Year
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
55772007
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
25622007
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
14412004
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
11692006
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
10622021
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
8642010
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
8052022
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7432015
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
7241998
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
6822008
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
6722007
Emery's Elements of Medical Genetics E-Book
PD Turnpenny, S Ellard
Elsevier Health Sciences, 2011
5982011
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
5872009
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
5772008
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
5592008
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
5292007
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
5152014
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
4762013
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
4762000
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
4742008
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