Associated Papers
Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.
Watanabe D et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
Lucchesi D et al.
Acta Diabetologica, 2024
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.
Skoczek D et al.
International Journal of Molecular Sciences, 2021
34299172 (PubMed )
Supplement: ijms-22-07553-s001.zip › ijms-1265050-supplementary.xlsx › Arkusz1
NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report.
Iafusco F et al.
Diagnostics (basel, Switzerland), 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2
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