Associated Papers
Computational Analysis of Deleterious nsSNPs in INS Gene Associated with Permanent Neonatal Diabetes Mellitus.
Ahmed EM et al.
Journal of Personalized Medicine, 2024
Loss of Preproinsulin Interaction with Signal Recognition Particle Activates Protein Quality Control, Decreasing mRNA Stability.
Miller SC et al.
Journal of Molecular Biology, 2024
A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.
Ataie-Ashtiani S et al.
Cells, 2023
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 2022
35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1
Emerging technologies in pediatrics: the paradigm of neonatal diabetes mellitus.
Nicolaides NC et al.
Critical Reviews in Clinical Laboratory Sciences, 2020
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Kingsmore SF et al.
American Journal of Human Genetics, 2019
Neonatal diabetes mellitus due to a novel variant in the INS gene.
Laurenzano SE et al.
Cold Spring Harbor Molecular Case Studies, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Clark MM et al.
Science Translational Medicine, 2019
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