Thomas W. Laver

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 47 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

Incorporating mtDNA Structural Variant Analysis Into Routine Genome Sequencing Increases Monogenic Diabetes Diagnosis at No Additional Cost.

Incorporating mtDNA Structural Variant Analysis Into Routine Genome Sequencing Increases Monogenic Diabetes Diagnosis at No Additional Cost.

Journal: Diabetes care

Published: May 22, 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

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

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.

Journal: Diabetologia

Published: August 27, 2025

Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.

Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 01, 2025

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Journal: Diabetes

Published: June 10, 2025

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.

Journal: The Journal of clinical investigation

Published: May 21, 2025

Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.

Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.

Journal: Diabetes

Published: May 06, 2025

Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.

Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.

Journal: European journal of endocrinology

Published: March 07, 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

Showing 1-12 of 47

Last Updated: 09/26/2026