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Ebiomedicine|January 7, 2026
Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetesJames Russ-Silsby, Kevin Colclough, Matthew B Johnson, et al.Cell Stem Cell|May 23, 2020
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC LineSiddharth Kishore, Elisa De Franco, Fabian L Cardenas-Diaz, et al.Diabetes|April 10, 2019
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA AssociatedMatthew B Johnson, Elisa De Franco, Siri Atma W Greeley, et al.Frontiers in Endocrinology|May 6, 2022
Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With <i>INS</i> Gene MutationsCan Thi Bich Ngoc, Vu Chi Dung, Elisa De Franco, et al.Diabetologia|March 2, 2026
Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODYThomas W Laver, Aparajita Sriram, Matthew N Wakeling, et al.Diabetes|June 11, 2016
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A MutationJayne A L Houghton, Galvin H Swift, Charles Shaw-Smith, et al.Diabetes|August 28, 2023
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes MellitusJames Russ-Silsby, Kashyap A Patel, Thomas W Laver, et al.Frontiers in Endocrinology|September 27, 2021
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K<sub>ATP</sub>-Channel Neonatal Diabetes Mellitus in Vietnam National Children's HospitalCan Thi Bich Ngoc, Tran Minh Dien, Elisa De Franco, et al.Diabetologia|May 2, 2022
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetesRebecca C Wyatt, William A Hagopian, Bart O Roep, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 13, 2018
Genetic mutations associated with neonatal diabetes mellitus in Omani patientsAisha Al Senani, Nishath Hamza, Hanan Al Azkawi, et al.Pageof 10