Παρακολούθηση
Sarah E. Flanagan
Sarah E. Flanagan
Professor in Genomic Medicine, Wellcome Trust Senior Research Fellow, University of Exeter
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα exeter.ac.uk - Αρχική σελίδα
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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
12162006
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
7002007
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
5472014
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
4972008
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
SE Flanagan, AM Patch, S Ellard
Genetic testing and molecular biomarkers 14 (4), 533-537, 2010
4802010
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
SE Flanagan, AM Patch, DJG Mackay, EL Edghill, AL Gloyn, D Robinson, ...
Diabetes 56 (7), 1930-1937, 2007
4562007
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
E De Franco, SE Flanagan, JAL Houghton, HL Allen, DJG Mackay, ...
The Lancet 386 (9997), 957-963, 2015
3982015
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
S Ellard, H Lango Allen, E De Franco, SE Flanagan, G Hysenaj, ...
Diabetologia 56, 1958-1963, 2013
3522013
GATA6 haploinsufficiency causes pancreatic agenesis in humans
HL Allen, SE Flanagan, C Shaw-Smith, E De Franco, I Akerman, ...
Nature genetics 44 (1), 20-22, 2012
3292012
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
MN Weedon, I Cebola, AM Patch, SE Flanagan, E De Franco, R Caswell, ...
Nature genetics 46 (1), 61-64, 2014
3232014
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
M Rafiq, SE Flanagan, AM Patch, BM Shields, S Ellard, AT Hattersley, ...
Diabetes care 31 (2), 204-209, 2008
3172008
Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes …
SE Flanagan, S Clauin, C Bellanné‐Chantelot, P de Lonlay, LW Harries, ...
Human mutation 30 (2), 170-180, 2009
3062009
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
SE Flanagan, EL Edghill, AL Gloyn, S Ellard, AT Hattersley
Diabetologia 49, 1190-1197, 2006
2842006
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity‐onset diabetes of the young and hyperinsulinemic hypoglycemia
K Colclough, C Bellanne‐Chantelot, C Saint‐Martin, SE Flanagan, ...
Human mutation 34 (5), 669-685, 2013
2832013
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
P Proks, AL Arnold, J Bruining, C Girard, SE Flanagan, B Larkin, ...
Human molecular genetics 15 (11), 1793-1800, 2006
2722006
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism
RR Kapoor, SE Flanagan, VB Arya, JP Shield, S Ellard, K Hussain
European journal of endocrinology 168 (4), 557-564, 2013
2602013
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
S Ellard, SE Flanagan, CA Girard, AM Patch, LW Harries, A Parrish, ...
The American Journal of Human Genetics 81 (2), 375-382, 2007
2512007
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
I Garin, EL Edghill, I Akerman, O Rubio-Cabezas, I Rica, JM Locke, ...
Proceedings of the National Academy of Sciences 107 (7), 3105-3110, 2010
2292010
Heterozygous ABCC8 mutations are a cause of MODY
P Bowman, SE Flanagan, EL Edghill, A Damhuis, MH Shepherd, ...
Diabetologia 55, 123-127, 2012
2252012
Hyperinsulinaemic hypoglycaemia
RR Kapoor, SE Flanagan, C James, J Shield, S Ellard, K Hussain
Archives of Disease in Childhood 94 (6), 450-457, 2009
1942009
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