Associated Papers
Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.
Taylor K et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Global perspectives on monogenic forms of diabetes.
Russ-Silsby J et al.
Diabetologia, 2025
Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.
Buhur Pirimoglu M et al.
Irish Journal of Medical Science, 2025
Maturity onset diabetes of the young and beyond: the changing face of single-gene diabetes.
Laver TW et al.
European Journal of Endocrinology, 2025
Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.
Rout M et al.
Communications Medicine, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures.
Kwon S et al.
Nature Methods, 2024
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
Kind L et al.
Jci Insight, 2024
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
Kaci A et al.
Human Molecular Genetics, 2024
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Murphy R et al.
Communications Medicine, 2023
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.
Murphy R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.
Marucci A et al.
Acta Diabetologica, 2023
The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.
Paterson AD et al.
Plos One, 2023
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Locke JM et al.
Diabetologia, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.
Çubuk H et al.
The Protein Journal, 2021
How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.
Vaxillaire M et al.
Current Diabetes Reports, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Shepherd MH et al.
Diabetologia, 2018
An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY.
Spiro AJ et al.
Case Reports in Endocrinology, 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.
Shepherd M et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2017
Precision diabetes: learning from monogenic diabetes.
Hattersley AT et al.
Diabetologia, 2017
Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.
Bacon S et al.
Acta Diabetologica, 2016
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
Laver TW et al.
Diabetes, 2016
Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.
Ludovico O et al.
Plos One, 2015
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
Colclough K et al.
Human Mutation, 2013