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European Journal of Endocrinology|January 28, 2022
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemiaSinéad M McGlacken-Byrne, Jasmina Kallefullah Mohammad, Niamh Conlon, et al.Journal of Diabetes Investigation|August 21, 2023
Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea-treated KCNJ11 neonatal diabetesPamela Bowman, Kashyap A Patel, Timothy J McDonald, et al.Diabetes|May 6, 2017
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal DiabetesMatthew B Johnson, Elisa De Franco, Hana Lango Allen, et al.American Journal of Human Genetics|March 21, 2026
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetesMatthew B Johnson, James Russ-Silsby, Paul A Blair, et al.Human Molecular Genetics|July 13, 2014
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stabilityAnne Raimondo, Ali J Chakera, Soren K Thomsen, et al.Diabetes|December 29, 2019
De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic DysfunctionElisa De Franco, Richard Caswell, Matthew B Johnson, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|November 7, 2025
Digital neuropathology of neurodegenerative disorders: Foundations, research advances, and future directionsAaron M Rosado, Juan C Vizcarra, Shivam R Rai Sharma, et al.Cell Reports|November 30, 2022
Interpretable deep learning translation of GWAS and multi-omics findings to identify pathobiology and drug repurposing in Alzheimer's diseaseJielin Xu, Chengsheng Mao, Yuan Hou, et al.Oral Oncology|March 19, 2026
Veteran oropharyngeal cancer outcomes in the modern era: a multi-institutional retrospective analysisSamantha Little, Margaret F Williams, Michael Gilkey, et al.Blood|December 21, 2007
The specificity of JAK3 kinase inhibitorsPaul S Changelian, Deborah Moshinsky, Cyrille F Kuhn, et al.Pageof 51