|
| 35159392 | Functional Genomic Screening in Human Pluripotent Stem Cells Reveals New Roadblocks in Early Pancreatic Endoderm Formation. | Cells | 2022 |
| 34663987 | Mutations and variants of ONECUT1 in diabetes. | Nat Med | 2021 |
| 34079523 | Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic Variants. | Frontiers in Endocrinology | 2021 |
| 33544221 | Familial autoimmunity in neurological patients with GAD65 antibodies: an interview-based study. | Journal of Neurology | 2021 |
| 33486469 | DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes. | European Journal of Endocrinology | 2021 |
| 34789845 | Transcriptional changes and the role of ONECUT1 in hPSC pancreatic differentiation. | Communications Biology | 2021 |
| 33164986 | YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. | J Clin Invest | 2020 |
| 31834638 | General regression model: A "model-free" association test for quantitative traits allowing to test for the underlying genetic model. | Annals of Human Genetics | 2020 |
| 30063815 | A systematic review of non-genetic predictors and genetic factors of glycated haemoglobin in type 1 diabetes one year after diagnosis. | Diabetes/Metabolism Research and Reviews | 2018 |
| 28911974 | Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons. | Genomics | 2018 |
| 28073829 | dUTPase (<i>DUT</i>) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure. | Diabetes | 2017 |
| 29112131 | Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation. | Genes | 2017 |
| 26159176 | A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. | Diabetes | 2015 |
| 24859506 | Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome. | Journal of Pediatric Endocrinology and Metabolism | 2014 |
| 23652376 | A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient. | European Journal of Human Genetics | 2014 |
| 23737756 | GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim. | PLoS Genetics | 2013 |
| 24204302 | tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. | PLoS Genet | 2013 |
| 23623699 | SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis. | | 2013 |
| 22278338 | Confirmation of novel type 1 diabetes risk loci in families. | Diabetologia | 2012 |
| 22891215 | Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes. | Diabetes | 2012 |
| 21266329 | Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs. | Diabetes | 2011 |
| 20587799 | Genetics of type 1 diabetes: what's next? | Diabetes | 2010 |
| 21050479 | Wolcott-Rallison syndrome. | Orphanet Journal of Rare Diseases | 2010 |
| 20009086 | A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. | | 2010 |
| 20202148 | Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. | Pediatric Diabetes | 2010 |
| 19956093 | Overview of the Type I Diabetes Genetics Consortium. | Genes Immun | 2009 |
| 19136655 | Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium. | Diabetes | 2009 |
| 19430480 | Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. | Nat Genet | 2009 |
| 19143823 | Results of the MHC fine mapping workshop. | Diabetes Obes Metab | 2009 |
| 19056102 | The large form of human 2',5'-Oligoadenylate Synthetase (OAS3) exerts antiviral effect against Chikungunya virus. | Virology | 2009 |
| 19956109 | The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome. | Genes and Immunity | 2009 |
| 19956104 | Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium. | Genes and Immunity | 2009 |
| 19956102 | Evidence for association of the TCF7 locus with type I diabetes. | Genes Immun | 2009 |
| 19956098 | Association analysis of SNPs in the IL4R locus with type I diabetes. | Genes Immun | 2009 |
| 19956096 | rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype. | Genes and Immunity | 2009 |
| 19956094 | Current status and the future for the genetics of type I diabetes. | Genes Immun | 2009 |
| 18647951 | A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3. | Diabetes | 2008 |
| 17961971 | FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traits. | Biomedicine and Pharmacotherapy | 2008 |
| 18806274 | WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. | Human Molecular Genetics | 2008 |
| 17484867 | Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency. | Gastroenterology | 2007 |
| 17259401 | PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits. | Diabetes | 2007 |
| 17130525 | The Type 1 Diabetes Genetics Consortium. | Ann N Y Acad Sci | 2006 |
| 16972080 | Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus. | Neurogenetics | 2006 |
| 16715098 | Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. | Nature Genetics | 2006 |
| 16274635 | [A variant in the CD209 (DC-SIGN) promoter is associated with severity of dengue disease]. | Medecine/Sciences | 2005 |
| 15863667 | Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? | Journal of Medical Genetics | 2005 |
| 15853902 | Genetic study of ICAM1 in clinical malaria in Senegal. | | 2005 |
| 15525660 | Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. | Human Molecular Genetics | 2005 |
| 15838506 | A variant in the CD209 promoter is associated with severity of dengue disease. | Nature Genetics | 2005 |
| 16198136 | Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes. | Molecular Genetics and Metabolism | 2005 |