Associated Papers
Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.
Su JY et al.
Elife, 2025
39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable
A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant.
Chua C et al.
Jcem Case Reports, 2025
Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.
Ding Y et al.
Pediatric Diabetes, 2025
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Yoon JG et al.
American Journal of Human Genetics, 2024
39047730 (PubMed )
Supplement: mmc3.pdf
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Novel Pathogenic De Novo INS p.T97P Variant Presenting With Severe Neonatal DKA.
Lal RA et al.
Endocrinology, 2022
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.
Aarthy R et al.
Journal of Diabetes and Its Complications, 2021
A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms.
Johnson SR et al.
Pediatric Diabetes, 2018
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
Johnson SR et al.
Pediatric Diabetes, 2018
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