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

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Dr Elisa De Franco

Dr Elisa De Franco

RD Lawrence Research Fellow

 +44 (0) 1392 408232

 RILD Building 3.01

 

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

Overview

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. 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 to identify of novel genetic causes of neonatal diabetes using whole genome sequencing, first as a a Naomi Berrie Research fellow in Diabetes (2015-2016) and then as a post-doctoral research fellow on a Wellcome Trust grant. During this time Elisa has contributed to the identification of  novel genetic causes of neonatal diabetes, with the latest one being recently published on the American Journal of Human Genetics (De Franco et al 2019 PMID:31006513).

Elisa has also worked part-time as a Healthcare scientist as part of the NHS Exeter exome service between August 2017 and August 201. During this time she has worked on analysed exome sequencing data from patients with a wide range of disease and she has contributed to the identification of novel genetic causes of various developmental disorders.

From September 1st 2019, Elisa has been awarded one of the very competitive Diabetes UK RD Lawrence fellowships which will fund her research for 5 years. During this time Elisa will work on developing her research team focussed on finding novel genes important for haman pancreatic development in order to bridge the gap between gene discovery and cell-based human therapy in type 1 diabetes.

Elisa is also leading scientist on 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

  • 2019: Diabetes UK RD Lawrence Fellowship
  • 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)

INVITED LECTURES

  • April 2019: 3rd Joint EASD Islet Study Group and Beta-Cell Workshop – Oxford (UK)
  • November 2018: Ireland Pediatric conference - Dublin (Ireland)
  • May 2018: Novo Nordisk Pediatric Diabetes Workshop - Stockholm (Sweden)
  • November 2016: Asia Pacific Paediatric Endocrine Society conference - Tokyo (Japan)
  • October 2016: Irish Molecular Diagnostics Meeting - Dublin (Ireland)
  • May 2016: Next Generation sequencing course provided by the European Society of Human Genetics - Bertinoro (Italy)
  • December 2015: Birmingham Women Hospital - Birmingham (UK)
  • November 2015: Scottish Study Group of Paediatric Diabetes - Pitlochry (UK)
  • May 2015: Next Generation sequencing course provided by the European Society of Human Genetics - Bertinoro (Italy)
  • May 2015: International Society for Pediatric and Adolescent Diabetes course - Varna  (Bulgaria)
  • December 2014: Postgraduate School of Human Genetics - Turin (Italy)

MEMBERSHIP TO PROFESSIONAL BODIES

  • European Society of Human Genetics
  • European Association for the Study of Diabetes
  • Genetics Society

REVIEWER FOR

  • Human Mutation
  • Journal of Endocrinology
  • Diabetic Medicine
  • Pediatric Diabetes
  • Hormone Research In Pediatrics
  • Molecular Genetics and genomics Medicine
  • BMC Pediatrics
  • Diabetes UK (Grant reviewer)

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

  • Bridging the gap between gene discovery and cell-based human therapy in type 1 diabetes (Diabetes UK RD Lawrence Fellowship - PI)
  • New insights into development and function of human beta cells by gene discovery in consanguineous patients (EFSD Rising Star Fellowship - PI)
  • New insights into development and function of human β-cells by gene discovery in early onset diabetes (DRWF Priming Grant - PI)
  • Investigating the genetic basis of neonatal diabetes (Naomi Berrie Fellowship in Diabetes Research - 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)

 

Research grants

  • 2019 Diabetes UK
    RD Lawrence Fellowship: Bridging the gap between gene discovery and cell-based human therapy in type 1 diabetes, £ 476,527
  • 2018 European Foundation for the Study of Diabetes
    Rising Star Fellowship: Investigating development and function of human β-cells by gene discovery in neonatal diabetes, £26,000
  • 2017 Diabetes Research and Wellness Foundation
    Pump Priming grant: New insights into development and function of human beta-cells by gene discovery in early-onset diabetes, £20,000
  • 2014 Naomi Berrie Foundation
    Naomi Berrie Fellowship in Diabetes research: Investigating the genetic basis of neonatal diabetes

Publications

Key publications | Publications by category | Publications by year

Key publications


De Franco E, Flanagan S, Caswell R, Ellard S, Hattersley A (2019). A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. American Journal of Human Genetics Full text.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (2018). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. Abstract.  Author URL.  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 (2017). 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.
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.
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.
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.

Publications by category


Journal articles

De Franco E (In Press). From biology to genes and back again: Gene discovery for monogenic forms of beta cell dysfunction in diabetes. Journal of Molecular Biology Full text.
Laver TW, De Franco E, Johnson MB, Patel K, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (In Press). SavvyCNV: genome-wide CNV calling from off-target reads.  Abstract.
Rautengarten C, Quarrell OW, Stals K, Caswell R, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, et al (2019). A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. Hum Mol Genet Abstract.  Author URL.
De Franco E, Flanagan S, Caswell R, Ellard S, Hattersley A (2019). A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. American Journal of Human Genetics Full text.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(4), 982-986. Abstract.  Author URL.  Full text.
Madani H, Elkaffas R, Alkholy B, Musa N, Shaalan Y, Elkaffas R, Hassan M, Hafez M, Flanagan SE, De Franco E, et al (2019). Identification of novel variants in neonatal diabetes mellitus genes in Egyptian patients with permanent NDM. International Journal of Diabetes in Developing Countries, 39(1), 53-59. Abstract.
Annamalai AK, Ellard S, Shanmugam M, Jai Juganya TP, De Franco E (2019). Juvenile diabetes and visual impairment: Wolfram syndrome. QJM, 112(10), 803-804. Author URL.
Lundgren M, De Franco E, Arnell H, Fischler B (2019). Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: a case report. Clin Case Rep, 7(6), 1133-1138. Abstract.  Author URL.
Novak A, Bowman P, Kraljevic I, Tripolski M, Houghton JAL, De Franco E, Shepherd MH, Skrabic V, Patel KA (2019). Transient Neonatal Diabetes: an Etiologic Clue for the Adult Diabetologist. Can J Diabetes Author URL.
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM, International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, et al (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes That is Autoimmune but Not HLA Associated. Diabetes, 68(7), 1528-1535. Abstract.  Author URL.  Full text.
Asl SN, Vakili R, Vakili S, Soheilipour F, Hashemipour M, Ghahramani S, De Franco E, Yaghootkar H (2019). Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes. J Pediatr Endocrinol Metab, 32(6), 607-613. Abstract.  Author URL.  Full text.
Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K (2018). A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes. J Clin Res Pediatr Endocrinol, 10(2), 175-178. Abstract.  Author URL.
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.
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.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S (2018). 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.
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.
Misra S, Vedovato N, Cliff E, De Franco E, Hattersley AT, Ashcroft FM, Oliver NS (2018). Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment. Diabet Med Abstract.  Author URL.  Full text.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (2018). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. 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.
De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (2017). 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.
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.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). 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.
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.
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 (2017). Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes, 66(8), 2316-2322. Abstract.  Author URL.  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 (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.
Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JKH, Hogue J, Slavotinek A, Shetty A, et al (2016). 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.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. 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.  Full text.
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 Abstract.
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, 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.
Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, et al (2014). Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man. Cell Metab, 19(1), 146-154. 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.
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

De Franco E (In Press). From biology to genes and back again: Gene discovery for monogenic forms of beta cell dysfunction in diabetes. Journal of Molecular Biology Full text.
Laver TW, De Franco E, Johnson MB, Patel K, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (In Press). SavvyCNV: genome-wide CNV calling from off-target reads.  Abstract.

2019

Rautengarten C, Quarrell OW, Stals K, Caswell R, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, et al (2019). A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. Hum Mol Genet Abstract.  Author URL.
De Franco E, Flanagan S, Caswell R, Ellard S, Hattersley A (2019). A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. American Journal of Human Genetics Full text.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(4), 982-986. Abstract.  Author URL.  Full text.
Madani H, Elkaffas R, Alkholy B, Musa N, Shaalan Y, Elkaffas R, Hassan M, Hafez M, Flanagan SE, De Franco E, et al (2019). Identification of novel variants in neonatal diabetes mellitus genes in Egyptian patients with permanent NDM. International Journal of Diabetes in Developing Countries, 39(1), 53-59. Abstract.
Annamalai AK, Ellard S, Shanmugam M, Jai Juganya TP, De Franco E (2019). Juvenile diabetes and visual impairment: Wolfram syndrome. QJM, 112(10), 803-804. Author URL.
Lundgren M, De Franco E, Arnell H, Fischler B (2019). Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: a case report. Clin Case Rep, 7(6), 1133-1138. Abstract.  Author URL.
Novak A, Bowman P, Kraljevic I, Tripolski M, Houghton JAL, De Franco E, Shepherd MH, Skrabic V, Patel KA (2019). Transient Neonatal Diabetes: an Etiologic Clue for the Adult Diabetologist. Can J Diabetes Author URL.
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM, International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, et al (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes That is Autoimmune but Not HLA Associated. Diabetes, 68(7), 1528-1535. Abstract.  Author URL.  Full text.
Asl SN, Vakili R, Vakili S, Soheilipour F, Hashemipour M, Ghahramani S, De Franco E, Yaghootkar H (2019). Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes. J Pediatr Endocrinol Metab, 32(6), 607-613. Abstract.  Author URL.  Full text.

2018

Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K (2018). A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes. J Clin Res Pediatr Endocrinol, 10(2), 175-178. Abstract.  Author URL.
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.
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.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S (2018). 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.
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.
Misra S, Vedovato N, Cliff E, De Franco E, Hattersley AT, Ashcroft FM, Oliver NS (2018). Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment. Diabet Med Abstract.  Author URL.  Full text.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (2018). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. 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.
De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (2017). 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.
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.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). 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.
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.
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 (2017). Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes, 66(8), 2316-2322. Abstract.  Author URL.  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 (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

Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JKH, Hogue J, Slavotinek A, Shetty A, et al (2016). 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.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. 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.  Full text.
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 Abstract.
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, 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.
Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, et al (2014). Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man. Cell Metab, 19(1), 146-154. 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.

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.

Elisa_De-Franco Details from cache as at 2019-10-22 23:03:04

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Teaching

University of Exeter Medical School - BSc Medical Sciences Final Year Project Supervisor

University of Exeter Medical School - SSU Provider (Genetics forms of diabetes) 

University of Exeter Medical School - MSc Genomic Medicine Project Supervisor

University of Exeter Medical School - Genetic Diabetes Nurses


 

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