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Diabetes|June 14, 2018
The Common <i>HNF1A</i> Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODYJonathan M Locke, Cécile Saint-Martin, Thomas W Laver, et al.
Diabetes|August 28, 2023
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes MellitusJames Russ-Silsby, Kashyap A Patel, Thomas W Laver, et al.
Plos One|February 7, 2020
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 28,389Daphne Yau, Thomas W Laver, Antonia Dastamani, et al.
Diabetes|August 4, 2016
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic DiabetesThomas W Laver, Kevin Colclough, Maggie Shepherd, et al.
American Journal of Human Genetics|October 18, 2022
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohortsUyenlinh L Mirshahi, Kevin Colclough, Caroline F Wright, et al.
Nature Communications|October 14, 2017
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceKashyap A Patel, Jarno Kettunen, Markku Laakso, et al.
Ebiomedicine|May 25, 2026
Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNAJasmin J Bennett, Thomas W Laver, Jonna M E Männistö, et al.
Pediatric Diabetes|March 16, 2022
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this groupThomas I Hewat, Thomas W Laver, Jayne A L Houghton, et al.
Wellcome Open Research|August 27, 2020
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndromeIndraneel Banerjee, Senthil Senniappan, Thomas W Laver, et al.
The Journal of Clinical Endocrinology and Metabolism|July 30, 2024
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic AnalysesJonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, et al.
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