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Jayne Houghton | doi.page

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Jayne Houghton

University of Exeter(GB)Royal Devon & Exeter NHS Foundation Trust(GB)Royal Devon & Exeter NHS Foundation Trust(GB)

Publications by Year

Research Areas

Hyperglycemia and glycemic control in critically ill and hospitalized patients, Pancreatic function and diabetes, Diabetes and associated disorders, Diabetes Management and Research, Metabolism, Diabetes, and Cancer

Most-Cited Works

→ The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study(2015)339 cited
→ Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis(2013)315 cited
→ Improved genetic testing for monogenic diabetes using targeted next-generation sequencing(2013)311 cited
→ Update of variants identified in the pancreatic β‐cell K _ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes(2020)167 cited
→ Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man(2014)145 cited
→ SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion(2012)136 cited

→ Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management(2020)82 cited

→ Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations(2015)66 cited

→ Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389(2020)59 cited

→ Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism(2022)59 cited