Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

Monogenic diabetes in adults: what are the new developments?

(2018) Katharine R Owen   CURRENT OPINION IN GENETICS & DEVELOPMENT

Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables

(2018) Emma Ahlqvist et al.   Lancet Diabetes & Endocrinology

Genetics of Monogenic Diabetes: Present Clinical Challenges

(2018) Shivani Misra et al.   Current Diabetes Reports

Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial

(2017) Jeffrey W Kleinberger et al.   GENETICS IN MEDICINE

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012

(2017) Maurizio Delvecchio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

(2016) Maggie Shepherd et al.   DIABETES CARE

South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people

(2016) Shivani Misra et al.   DIABETOLOGIA

Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

(2016) Bente B. Johansson et al.   DIABETOLOGIA

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes

(2016) Jason Flannick et al.   Nature Reviews Endocrinology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model

(2014) Rui Gao et al.   BMC GENETICS

Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

(2014) G. Alkorta-Aranburu et al.   MOLECULAR GENETICS AND METABOLISM

Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing

(2013) A. Bonnefond et al.   DIABETES CARE

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

(2013) S. Ellard et al.   DIABETOLOGIA

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

(2013) Juraj Stanik et al.   DIABETOLOGIA

Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth

(2013) Catherine Pihoker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

HNF1Bdeletions in patients with young-onset diabetes but no known renal disease

(2012) E. L. Edghill et al.   DIABETIC MEDICINE

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes

(2012) B. M. Shields et al.   DIABETOLOGIA

Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

(2012) Amélie Bonnefond et al.   PLoS One

Clinical and Metabolic Features of Adult-Onset Diabetes Caused by ABCC8 Mutations

(2011) J.-P. Riveline et al.   DIABETES CARE

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

(2011) T. J. McDonald et al.   DIABETIC MEDICINE

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

(2010) B. M. Shields et al.   DIABETOLOGIA