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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2018
Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian diseaseMatthew Neil Wakeling, Thomas William Laver, Caroline Fiona Wright, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian diseaseMatthew Neil Wakeling, Thomas William Laver, Caroline Fiona Wright, et al.EMBO Molecular Medicine|January 27, 2023
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiPLuke A Perera, Andrew T Hattersley, Heather P Harding, et al.Pediatric Diabetes|April 30, 2025
Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in SudanSamar S Hassan, Salwa A Musa, Elisa De Franco, et al.Journal of Clinical Research in Pediatric Endocrinology|July 1, 2017
An <i>ABCC8</i> Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript ExpressionSarah E Flanagan, Vũ Chí Dũng, Jayne A L Houghton, et al.Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|November 29, 2017
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of DiabetesZeynep Şıklar, Elisa de Franco, Matthew B Johnson, et al.Cell Reports|April 14, 2021
Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin geneIldem Akerman, Miguel Angel Maestro, Elisa De Franco, et al.Human Molecular Genetics|August 20, 2019
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasiaCarsten Rautengarten, Oliver W Quarrell, Karen Stals, et al.Journal of Clinical Immunology|January 4, 2023
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX SyndromeRebecca C Wyatt, Sven Olek, Elisa De Franco, et al.Ebiomedicine|May 10, 2026
Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetesSuhel Ahmed, Victoria Lewis, James Russ-Silsby, et al.Pageof 10