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European Journal of Human Genetics : EJHG|April 11, 2024
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elementsThomas W Laver, Matthew N Wakeling, Richard C Caswell, et al.Human Mutation|February 7, 2020
Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetesElisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, et al.Genome Medicine|March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityJasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.Nature Genetics|November 5, 2022
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinismMatthew N Wakeling, Nick D L Owens, Jessica R Hopkinson, et al.The Journal of Clinical Investigation|November 9, 2020
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stressElisa De Franco, Maria Lytrivi, Hazem Ibrahim, et al.The Journal of Clinical Investigation|September 9, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndromeEnrico Virgilio, Sylvia Tielens, Georgia Bonfield, et al.Pageof 4