Elisa De Franco

University of Exeter — United Kingdom

Medicine · Health Sciences

34h-index5.0kcitations163works7.72yr avg
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Research Topics

Pancreatic function and diabetes(107), Diabetes and associated disorders(60), Diabetes Management and Research(40), Congenital heart defects research(20), Hyperglycemia and glycemic control in critically ill and hospitalized patients(16)

Publications145 total

Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity
Journal of Pediatric Endocrinology and Metabolism·2025Open Access
The minor spliceosome is a master immune regulator
2025Open Access
Neonatal diabetes mellitus is a significant feature of <scp>COXPD</scp>‐24 caused by recessive <scp><i>NARS2</i></scp> variants
Diabetic Medicine·2025· 2 citedOpen Access
Global perspectives on monogenic forms of diabetes
Diabetologia·2025· 5 citedOpen Access
Complete loss of PAX4 causes transient neonatal diabetes in humans
Molecular Metabolism·2025Open Access
Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans
2025
Two cases of neonatal hyperglycemia caused by a homozygous <scp><i>COQ9</i></scp> stop‐gain variant
Journal of Diabetes Investigation·2025Open Access
A Specific de novo ACTB Variant Is a Novel Cause of Syndromic Neonatal Diabetes
SSRN Electronic Journal·2025Open Access
Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes
Diabetes·2024· 5 citedOpen Access
Type 1 diabetes genetic risk contributes to phenotypic presentation in monogenic autoimmune diabetes
2024Open Access
A homozygous <scp><i>TARS2</i></scp> variant is a novel cause of syndromic neonatal diabetes
Diabetic Medicine·2024· 4 citedOpen Access
Widening the phenotypic spectrum caused by pathogenic <i>PDX1</i> variants in individuals with neonatal diabetes
BMJ Open Diabetes Research & Care·2024· 2 citedOpen Access
Population labels can be generated directly from targeted next-generation sequencing data
2024· 2 citedOpen Access
6410 Investigating possible genotype-phenotype relationship in patients with neonatal diabetes caused by mutations in GATA6 and PDX1
2024
Developmentally dynamic changes in DNA methylation in the human pancreas
BMC Genomics·2024· 5 citedOpen Access
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
PubMed·2024· 9 citedOpen Access
Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan
Pediatric Diabetes·2024· 5 citedOpen Access
Primate-specific ZNF808 is essential for pancreatic development in humans
Nature Genetics·2023· 45 citedOpen Access
Neonatal diabetes experience from a single centre
Endocrine Abstracts·2023
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq
Diabetologia·2023· 5 citedOpen Access
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Frequent Co-authors

Sian Ellard(37), Sarah E. Flanagan(31), Andrew T. Hattersley(30), Richard Caswell(10), Jayne Houghton(10), Matthew B. Johnson(9), Kashyap Patel(8), Matthew N. Wakeling(8), Hana Lango Allen(7), Charles Shaw‐Smith(6), Thomas W. Laver(6), Michael N. Weedon(5), Maggie Shepherd(4), Abdelhadi Habeb(4), Timothy J. McDonald(3), Timo Otonkoski(3), Jorge Ferrer(3), Pamela Bowman(3), Ali Chakera(3), Siri Atma W. Greeley(3)