Publications by authors named "Thomas Laver"

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Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY.
Aparajita Sriram, Matthew N Wakeling, Andrew T Hattersley, Michael N Weedon, Kevin Colclough, Thomas W Laver

Diabetes· November 2025

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Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Enrico Virgilio, Sylvia Tielens, Georgia Bonfield, Fang-Shin Nian, Toshiaki Sawatani, Thomas W Laver

J Clin Invest· November 2025

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Population prevalence, penetrance, and mortality for genetically confirmed MODY.
Luke N Sharp, Kevin Colclough, Jacques Murray Leech, Stuart J Cannon, Thomas W Laver

J Clin Endocrinol Metab· November 2025

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MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Luke N Sharp, Uyenlinh L Mirshahi, Kevin Colclough, Timothy S Hall, Jeremy S Haley, Thomas W Laver

Diabetes· November 2025

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Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.
Thomas W Laver, Kashyap A Patel

Eur J Endocrinol· August 2025

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Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.
Sarah E Flanagan, Isabella-Anna Lazaridi, Jonna M E Männistö, Jasmin J Bennett, Oguzhan Kalyon, Thomas W Laver

Front Endocrinol (Lausanne)· May 2025

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REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Jasmin J Hopkins, Matthew N Wakeling, Matthew B Johnson, Sarah E Flanagan, Thomas W Laver

Hum Mutat· April 2025

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Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.
Jonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, Fatima Nasser, Joseph Burrage, Thomas W Laver

J Clin Endocrinol Metab· April 2025

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Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Jasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M E Männistö, Jayne A L Houghton, Thomas W Laver

Genome Med· March 2025

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Accurate and cost-effective generation of a genetic risk score direct from blood lysates.
Jonathan M Locke, Benjamin Spurrier, Thomas W Laver, Jayne A L Houghton, Kevin Colclough

J Transl Med· December 2024

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Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau

Eur J Hum Genet· July 2024

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The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus.
James Russ-Silsby, Kashyap A Patel, Thomas W Laver, Gareth Hawkes, Matthew B Johnson

Diabetes· November 2023

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Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
Jasmin J Hopkins, Alexandra J Childs, Jayne A L Houghton, Thomas I Hewat, Navoda Atapattu, Thomas W Laver

J Clin Endocrinol Metab· February 2023

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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Uyenlinh L Mirshahi, Kevin Colclough, Caroline F Wright, Andrew R Wood, Robin N Beaumont, Thomas W Laver

Am J Hum Genet· November 2022

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Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Matthew N Wakeling, Nick D L Owens, Jessica R Hopkinson, Matthew B Johnson, Jayne A L Houghton, Thomas W Laver

Nat Genet· November 2022

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Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Thomas I Hewat, Thomas W Laver, Jayne A L Houghton, Jonna M E Männistö, Sabah Alvi

Pediatr Diabetes· June 2022

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Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
Thomas W Laver, Matthew N Wakeling, Olivia Knox, Kevin Colclough, Caroline F Wright

Diabetes· May 2022

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PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.
Kashyap A Patel, Shivang Burman, Thomas W Laver, Andrew T Hattersley, Timothy M Frayling

J Clin Endocrinol Metab· May 2022

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SavvyCNV: Genome-wide CNV calling from off-target reads.
Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap A Patel, Sian Ellard

PLoS Comput Biol· March 2022

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Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.
Thomas I Hewat, Daphne Yau, Joseph C S Jerome, Thomas W Laver, Jayne A L Houghton

Eur J Endocrinol· October 2021

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
Elisa De Franco, Maria Lytrivi, Hazem Ibrahim, Hossam Montaser, Matthew N Wakeling, Thomas W Laver

J Clin Invest· December 2020

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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard Caswell, Martin Zenker

Wellcome Open Res· August 2020

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Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
Richard C Caswell, Tristan Snowsill, Jayne A L Houghton, Ali J Chakera, Maggie H Shepherd, Thomas W Laver

Clin Chem· July 2020

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Update of variants identified in the pancreatic β-cell K channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Elisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, Amy E Knight Johnson, Lydia Aguilar-Bryan, Thomas W Laver

Hum Mutat· May 2020

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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.
Daphne Yau, Thomas W Laver, Antonia Dastamani, Senthil Senniappan, Jayne A L Houghton

PLoS One· April 2020

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