Jayne L. Houghton

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 61 publications

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott-Rallison syndrome.

Journal: Diabetic medicine : a journal of the British Diabetic Association

Published: July 20, 2026

Clinical Utility of a Type 1 Diabetes Genetic Risk Score Measured as Part of MODY Genetic Testing.

Clinical Utility of a Type 1 Diabetes Genetic Risk Score Measured as Part of MODY Genetic Testing.

Journal: Diabetes care

Published: May 14, 2026

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.

Journal: EBioMedicine

Published: January 28, 2026

Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.

Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.

Journal: Journal of the Endocrine Society

Published: January 13, 2026

Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.

Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.

Journal: Journal of medical genetics

Published: October 07, 2025

Genetics of pancreatic agenesis: a 21-year international cohort study.

Genetics of pancreatic agenesis: a 21-year international cohort study.

Journal: The lancet. Diabetes & endocrinology

Published: September 09, 2025

Clinical Utility and Cost-Effectiveness of Pretreatment NUDT15 Pharmacogenetic Testing to Prevent Thiopurine-Induced Myelosuppression: A Genotype-First Reverse Phenotyping Cohort Study Within the UK NIHR Inflammatory Bowel Disease Bioresource.

Clinical Utility and Cost-Effectiveness of Pretreatment NUDT15 Pharmacogenetic Testing to Prevent Thiopurine-Induced Myelosuppression: A Genotype-First Reverse Phenotyping Cohort Study Within the UK NIHR Inflammatory Bowel Disease Bioresource.

Journal: Alimentary pharmacology & therapeutics

Published: March 31, 2025

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.

Journal: PloS one

Published: March 14, 2025

Accurate and cost-effective generation of a genetic risk score direct from blood lysates.

Accurate and cost-effective generation of a genetic risk score direct from blood lysates.

Journal: Journal of translational medicine

Published: December 04, 2024

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 11, 2024

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.

Journal: Frontiers in endocrinology

Published: October 21, 2024

Congenital hyperinsulinism in the Ukraine: a 10-year national study.

Congenital hyperinsulinism in the Ukraine: a 10-year national study.

Journal: Frontiers in endocrinology

Published: September 17, 2024

Showing 1-12 of 61

Last Updated: 09/26/2026