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European Journal of Endocrinology|August 17, 2025
Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetesThomas W Laver, Kashyap A Patel
Human Mutation|April 14, 2025
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsJasmin J Hopkins, Matthew N Wakeling, Matthew B Johnson, et al.
Wellcome Open Research|January 25, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosisMatthew N Wakeling, Thomas W Laver, Kevin Colclough, et al.
The Journal of Clinical Endocrinology and Metabolism|March 2, 2022
PLIN1 Haploinsufficiency Causes a Favorable Metabolic ProfileKashyap A Patel, Shivang Burman, Thomas W Laver, et al.
Diabetes|August 8, 2025
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODYAparajita Sriram, Matthew N Wakeling, Andrew T Hattersley, et al.
Clinical Endocrinology|September 22, 2018
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemiaThomas W Laver, Matthew N Wakeling, Janet Hong Yeow Hua, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 2025
Population prevalence, penetrance, and mortality for genetically confirmed MODYLuke N Sharp, Kevin Colclough, Jacques Murray Leech, et al.
Plos Computational Biology|March 16, 2022
SavvyCNV: Genome-wide CNV calling from off-target readsThomas W Laver, Elisa De Franco, Matthew B Johnson, et al.
Diabetes|February 2, 2022
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODYThomas W Laver, Matthew N Wakeling, Olivia Knox, et al.
Scientific Reports|February 18, 2016
Pitfalls of haplotype phasing from amplicon-based long-read sequencingThomas W Laver, Richard C Caswell, Karen A Moore, et al.
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