COLLEGE OF MEDICINE AND HEALTH
Medicine, Nursing and Allied Health Professions

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Elisa De Franco

Research fellow

 +44 (0) 1392 408232

 RILD Building 

 

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK

Following graduation from the University of Turin, in Italy, Elisa joined the Monogenic diabetes group in Exeter in 2011 as a PhD student. The PhD was funded by the European Union as part of the Marie Curie Initial Training netweork - BOLD (Biology of Liver and Pancreas Disease) project (http://cordis.europa.eu/project/rcn/92033_en.html). During her PhD Elisa investigated the role of transcription factors important for pancreatic development in pathogenesis of neonatal diabetes.

Following completion of her PhD in 2014, Elisa has continued her research in neonatal diabetes and in 2015 and 2016 was a Naomi Berrie Research fellow in Diabetes.

Elisa is currently working as a Research fellow, focussing her research on identification of novel geneti causes of neonatal diabetes using whole genome sequencing.

Elisa is also leading the neonatal diabetes genetic testing service (http://www.diabetesgenes.org/content/genetic-testing-neonatal-diabetes). If you would like to contact Elisa regarding genetic testing for neonatal diabetes please email her at E.De-Franco@exeter.ac.uk or elisa.defranco@nhs.net if you are sending sensitive information. 

 

 

AWARDS & PRIZES

  • 2018: EASD Rising Star Award
  • 2018: DRWF Pump Priming Grant 
  • 2017: Finalist of the AMS clinical prize for best poster
  • 2016: The BMJ Awards- Diabetes Team of the Year
  • 2015: EASD-Study Group for the Genetics of Diabetes Young Investigator Award
  • 2014: Genetics society travel grant
  • 2014: Shortlisted for the ESHG Young Investigator Award
  • 2013: EASD-Study Group for the Genetics of Diabetes Young Investigator Award
  • 2011: EASD-Study Group for the Genetics of Diabetes Travel award (500 euros)
  • 2011: Biology of liver and pancreas development and disease conference Travel award (350 euros)

Qualifications

  • 2008: BSc (University of Turin – Italy)
  • 2010: MSc (University of Turin – Italy)
  • 2014: PhD (Peninsula College of Medicine & Dentistry - Universities of Exeter & Plymouth)

Links

Research

Research interests

Elisa describes her research into genes that cause diabetes in newborns in the video below, filmed at the Living Systems Institute Symposium 2016.

 

Research projects

  • New insights into development and function of human β-cells by gene discovery in early onset diabetes (DRWF Priming Grant - PI)
  • New insights from neonatal diabetes. Wellcome Trust Funding to Prof Andrew Hattersley and Prof Sian Ellard
  • Biology of Liver and Pancreatic Development and Disease (FP7-PEOPLE-ITN-2008)

 

Key publications | Publications by category | Publications by year

Publications by category


Journal articles

Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K (In Press). A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes. J Clin Res Pediatr Endocrinol, 10(2), 175-178. Abstract.  Author URL.
Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JKH, Hogue J, Slavotinek A, Shetty A, et al (In Press). An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3). Am J Med Genet A, 170(7), 1918-1923. Abstract.  Author URL.
De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (In Press). Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med, 34(4), 582-585. Abstract.  Author URL.  Full text.
Ellard S, Flanagan SE, De Franco E, Lango Allen H, Zera M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, et al (In Press). Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Meatabolism Full text.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (In Press). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.  Full text.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, et al (In Press). Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322. Diabetes, 67(3). Author URL.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (In Press). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.  Full text.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S (In Press). Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation. J Clin Res Pediatr Endocrinol, 10(2), 168-174. Abstract.  Author URL.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (In Press). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. Abstract.  Author URL.  Full text.
Johnson MB, De Franco E, Lango-Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Ullah I, et al (In Press). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes Full text.
Johnson MBJ, Patel K, De Franco E, Houghton J, McDonald T, Ellard S, Flanagan S, Hattersley A (2018). A Type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early onset clustering of polygenic autoimmunity with diabetes. Diabetologia Full text.
Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, et al (2018). Correction: Reinauer et al. the Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146. Genes (Basel), 9(1). Abstract.  Author URL.
Yildiz M, Akcay T, Aydin B, Akgun A, Dogan BB, De Franco E, Ellard S, Onal H (2018). Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation. J Pediatr Endocrinol Metab, 31(3), 345-348. Abstract.  Author URL.
Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, et al (2018). Genetic mutations associated with neonatal diabetes mellitus in Omani patients. J Pediatr Endocrinol Metab, 31(2), 195-204. Abstract.  Author URL.
Savova R, De Franco E, Shaw-Smith C, Georgieva R, Konstantinova M, Archinkova M, Panteleeva E, Kaneva A, Marinov R, Ellard S, et al (2018). Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6. Biotechnology and Biotechnological Equipment, 32(1), 124-129. Abstract.  Full text.
Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, et al (2018). Monogenic Diabetes Not Caused By Mutations in Mody Genes: a Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes, 126(10), 612-618. Abstract.  Author URL.  Full text.
Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S (2018). Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. Pediatr Diabetes, 19(5), 898-904. Abstract.  Author URL.  Full text.
Flanagan SE, Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S (2017). An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. J Clin Res Pediatr Endocrinol, 9(3), 260-264. Abstract.  Author URL.
Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ (2017). Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol, 12(1). Abstract.  Author URL.
Jain V, Satapathy A, Yadav J, Sharma R, Radha V, Mohan V, De Franco E, Ellard S (2017). Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. Indian Pediatr, 54(6), 467-471. Abstract.  Author URL.
Gabbay M, Ellard S, De Franco E, Moisés RS (2017). Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. J Clin Res Pediatr Endocrinol, 9(3), 274-277. Abstract.  Author URL.
Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, et al (2017). The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes is Independent of the HLA DR-DQ Genotype. Genes (Basel), 8(5). Abstract.  Author URL.  Full text.
Antosik K, Gnys P, De Franco E, Borowiec M, Mysliwiec M, Ellard S, Mlynarski W (2016). Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology. Acta Diabetol, 53(2), 337-338. Author URL.
Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Full text.
Dimitri P, Habeb AM, Gurbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, et al (2015). Expanding the Clinical Spectrum Associated with GLIS3 Mutations. J Clin Endocrinol Metab, 100(10), E1362-E1369. Abstract.  Author URL.  Full text.
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America, 62(4), 1037-1053. Abstract.
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America Abstract.
De Franco E, Flanagan SE, Houghton JAL, Allen HL, MacKay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. The Lancet, 386(9997), 957-963. Abstract.
De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 386(9997), 957-963. Abstract.  Author URL.  Full text.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, Mcdonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nature Genetics, 46(8), 812-814. Abstract.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract.  Author URL.  Full text.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, et al (2014). GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63(8), 2888-2894. Abstract.  Author URL.  Full text.
Ellard S, De Franco E (2014). Next-generation sequencing for the diagnosis of monogenic diabetes and discovery of novel aetiologies. Frontiers in Diabetes, 23, 71-86. Abstract.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H, et al (2014). Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet, 23(24), 6432-6440. Abstract.  Author URL.  Full text.
Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Allen HL, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, De Franco E, Ellard S, Hattersley A, Guleryuz H, Bober E (2013). A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes and Metabolism, 39(4), 370-374. Abstract.
De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, et al (2013). Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency. Diabet Med, 30(5), e197-e200. Abstract.  Author URL.
De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDM Consortium, Hattersley AT, Ellard S (2013). GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62(3), 993-997. Abstract.  Author URL.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.  Author URL.  Full text.
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract.  Author URL.

Publications by year


In Press

Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K (In Press). A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes. J Clin Res Pediatr Endocrinol, 10(2), 175-178. Abstract.  Author URL.
Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JKH, Hogue J, Slavotinek A, Shetty A, et al (In Press). An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3). Am J Med Genet A, 170(7), 1918-1923. Abstract.  Author URL.
De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (In Press). Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med, 34(4), 582-585. Abstract.  Author URL.  Full text.
Ellard S, Flanagan SE, De Franco E, Lango Allen H, Zera M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, et al (In Press). Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Meatabolism Full text.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (In Press). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.  Full text.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, et al (In Press). Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322. Diabetes, 67(3). Author URL.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (In Press). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.  Full text.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S (In Press). Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation. J Clin Res Pediatr Endocrinol, 10(2), 168-174. Abstract.  Author URL.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (In Press). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. Abstract.  Author URL.  Full text.
Johnson MB, De Franco E, Lango-Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Ullah I, et al (In Press). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes Full text.

2018

Johnson MBJ, Patel K, De Franco E, Houghton J, McDonald T, Ellard S, Flanagan S, Hattersley A (2018). A Type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early onset clustering of polygenic autoimmunity with diabetes. Diabetologia Full text.
Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, et al (2018). Correction: Reinauer et al. the Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146. Genes (Basel), 9(1). Abstract.  Author URL.
Yildiz M, Akcay T, Aydin B, Akgun A, Dogan BB, De Franco E, Ellard S, Onal H (2018). Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation. J Pediatr Endocrinol Metab, 31(3), 345-348. Abstract.  Author URL.
Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, et al (2018). Genetic mutations associated with neonatal diabetes mellitus in Omani patients. J Pediatr Endocrinol Metab, 31(2), 195-204. Abstract.  Author URL.
Savova R, De Franco E, Shaw-Smith C, Georgieva R, Konstantinova M, Archinkova M, Panteleeva E, Kaneva A, Marinov R, Ellard S, et al (2018). Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6. Biotechnology and Biotechnological Equipment, 32(1), 124-129. Abstract.  Full text.
Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, et al (2018). Monogenic Diabetes Not Caused By Mutations in Mody Genes: a Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes, 126(10), 612-618. Abstract.  Author URL.  Full text.
Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S (2018). Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. Pediatr Diabetes, 19(5), 898-904. Abstract.  Author URL.  Full text.

2017

Flanagan SE, Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S (2017). An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. J Clin Res Pediatr Endocrinol, 9(3), 260-264. Abstract.  Author URL.
Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ (2017). Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol, 12(1). Abstract.  Author URL.
Jain V, Satapathy A, Yadav J, Sharma R, Radha V, Mohan V, De Franco E, Ellard S (2017). Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. Indian Pediatr, 54(6), 467-471. Abstract.  Author URL.
Gabbay M, Ellard S, De Franco E, Moisés RS (2017). Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. J Clin Res Pediatr Endocrinol, 9(3), 274-277. Abstract.  Author URL.
Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, et al (2017). The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes is Independent of the HLA DR-DQ Genotype. Genes (Basel), 8(5). Abstract.  Author URL.  Full text.

2016

Antosik K, Gnys P, De Franco E, Borowiec M, Mysliwiec M, Ellard S, Mlynarski W (2016). Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology. Acta Diabetol, 53(2), 337-338. Author URL.
Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Full text.

2015

Dimitri P, Habeb AM, Gurbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, et al (2015). Expanding the Clinical Spectrum Associated with GLIS3 Mutations. J Clin Endocrinol Metab, 100(10), E1362-E1369. Abstract.  Author URL.  Full text.
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America, 62(4), 1037-1053. Abstract.
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America Abstract.
De Franco E, Flanagan SE, Houghton JAL, Allen HL, MacKay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. The Lancet, 386(9997), 957-963. Abstract.
De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 386(9997), 957-963. Abstract.  Author URL.  Full text.

2014

Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, Mcdonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nature Genetics, 46(8), 812-814. Abstract.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract.  Author URL.  Full text.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, et al (2014). GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63(8), 2888-2894. Abstract.  Author URL.  Full text.
Ellard S, De Franco E (2014). Next-generation sequencing for the diagnosis of monogenic diabetes and discovery of novel aetiologies. Frontiers in Diabetes, 23, 71-86. Abstract.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H, et al (2014). Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet, 23(24), 6432-6440. Abstract.  Author URL.  Full text.
Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Allen HL, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract.  Author URL.

2013

Catli G, Abaci A, Flanagan SE, De Franco E, Ellard S, Hattersley A, Guleryuz H, Bober E (2013). A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes and Metabolism, 39(4), 370-374. Abstract.
De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, et al (2013). Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency. Diabet Med, 30(5), e197-e200. Abstract.  Author URL.
De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDM Consortium, Hattersley AT, Ellard S (2013). GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62(3), 993-997. Abstract.  Author URL.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.  Author URL.  Full text.

2011

Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract.  Author URL.

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