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European Journal of Endocrinology|October 11, 2021
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11Thomas I Hewat, Daphne Yau, Joseph C S Jerome, et al.
The Journal of Pathology. Clinical Research|October 3, 2019
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinismJayne Al Houghton, Indraneel Banerjee, Guftar Shaikh, et al.
The Journal of Clinical Endocrinology and Metabolism|October 14, 2022
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be MonogenicJasmin J Hopkins, Alexandra J Childs, Jayne A L Houghton, et al.
Clinical Chemistry|June 14, 2020
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes VariantsRichard C Caswell, Tristan Snowsill, Jayne A L Houghton, et al.
The Journal of Clinical Endocrinology and Metabolism|July 19, 2018
PLIN1 Haploinsufficiency Is Not Associated With LipodystrophyThomas W Laver, Kashyap A Patel, Kevin Colclough, et al.
Frontiers in Endocrinology|March 5, 2025
Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testingSarah E Flanagan, Isabella-Anna Lazaridi, Jonna M E Männistö, et al.
Diabetologia|March 2, 2026
Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODYThomas W Laver, Aparajita Sriram, Matthew N Wakeling, et al.
Journal of Medical Genetics|March 31, 2026
Long-read sequencing enables trio-assisted phasing of <i>de novo</i> variants in the imprinted gene <i>MAGEL2</i>Thomas W Laver, Preeah Sangha, Lucy Mallin, et al.
American Journal of Human Genetics|January 23, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population SettingCaroline F Wright, Ben West, Marcus Tuke, et al.
Diabetes|November 25, 2025
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to IdentifyLuke N Sharp, Uyenlinh L Mirshahi, Kevin Colclough, et al.
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