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Elisa De Franco
Elisa De Franco
Verified email at exeter.ac.uk
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Year
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
5122014
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
3542015
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
3392013
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
3052012
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
3042014
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man
SE Flanagan, E De Franco, HL Allen, M Zerah, MM Abdul-Rasoul, ...
Cell metabolism 19 (1), 146-154, 2014
1632014
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study
P Bowman, Å Sulen, F Barbetti, J Beltrand, P Svalastoga, E Codner, ...
The lancet Diabetes & endocrinology 6 (8), 637-646, 2018
1622018
Type 1 diabetes genetic risk score: a novel tool to discriminate monogenic and type 1 diabetes
KA Patel, RA Oram, SE Flanagan, E De Franco, K Colclough, M Shepherd, ...
Diabetes 65 (7), 2094-2099, 2016
1462016
GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
E De Franco, C Shaw-Smith, SE Flanagan, MH Shepherd, ...
Diabetes 62 (3), 993-997, 2013
1452013
GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes
C Shaw-Smith, E De Franco, H Lango Allen, M Batlle, SE Flanagan, ...
Diabetes 63 (8), 2888-2894, 2014
1362014
Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
E De Franco, C Saint‐Martin, K Brusgaard, AE Knight Johnson, ...
Human mutation 41 (5), 884-905, 2020
1042020
Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and …
E De Franco, SE Flanagan, T Yagi, D Abreu, J Mahadevan, MB Johnson, ...
Diabetes 66 (7), 2044-2053, 2017
852017
Expanding the Clinical Spectrum Associated With GLIS3 Mutations
P Dimitri, AM Habeb, F Garbuz, A Millward, S Wallis, K Moussa, T Akcay, ...
The Journal of Clinical Endocrinology & Metabolism 100 (10), E1362-E1369, 2015
752015
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
MB Johnson, E De Franco, H Lango Allen, A Al Senani, N Elbarbary, ...
Diabetes 66 (8), 2316-2322, 2017
712017
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
E De Franco, M Lytrivi, H Ibrahim, H Montaser, MN Wakeling, F Fantuzzi, ...
The Journal of clinical investigation 130 (12), 6338-6353, 2020
662020
Pathological β-cell endoplasmic reticulum stress in type 2 diabetes: current evidence
N Shrestha, E De Franco, P Arvan, M Cnop
Frontiers in endocrinology 12, 650158, 2021
642021
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency
E De Franco, C Shaw‐Smith, SE Flanagan, EL Edghill, J Wolf, V Otte, ...
Diabetic Medicine 30 (5), e197-e200, 2013
542013
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
A Raimondo, AJ Chakera, SK Thomsen, K Colclough, A Barrett, ...
Human molecular genetics 23 (24), 6432-6440, 2014
522014
A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
E De Franco, RA Watson, WJ Weninger, CC Wong, SE Flanagan, ...
The American Journal of Human Genetics 104 (5), 985-989, 2019
512019
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates
A Deeb, A Habeb, W Kaplan, S Attia, S Hadi, A Osman, J Al‐Jubeh, ...
American Journal of Medical Genetics Part A 170 (3), 602-609, 2016
402016
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