Monogenic diabetes: Implementation of translational genomic research towards precision medicine

MicroRNAs in metabolism

(2016) S. Vienberg et al.   Acta Physiologica

Metabolomics in Prediabetes and Diabetes: A Systematic Review and Meta-analysis

(2016) Marta Guasch-Ferré et al.   DIABETES CARE

Long-term glycemic control using polymer-encapsulated human stem cell–derived beta cells in immune-competent mice

(2016) Arturo J Vegas et al.   NATURE MEDICINE

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

(2016) Jason Flannick et al.   Nature Reviews Endocrinology

Rare and Common Genetic Events in Type 2 Diabetes: What Should Biologists Know?

(2015) Amélie Bonnefond et al.   Cell Metabolism

Undiagnosed MODY: Time for Action

(2015) Jeffrey W. Kleinberger et al.   Current Diabetes Reports

Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes

(2015) Brian W. Thurber et al.   DIABETOLOGIA

Identification of microRNA biomarkers in type 2 diabetes: a meta-analysis of controlled profiling studies

(2015) Hongmei Zhu et al.   DIABETOLOGIA

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

(2015) Yu Sun et al.   HUMAN MUTATION

Continued lessons from theINSgene: an intronic mutation causing diabetes through a novel mechanism

(2015) David Carmody et al.   JOURNAL OF MEDICAL GENETICS

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

(2015) Elisa De Franco et al.   LANCET

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism

(2015) James T. Bennett et al.   MOLECULAR GENETICS AND METABOLISM

Plasma metabolomic profiles enhance precision medicine for volunteers of normal health

(2015) Lining Guo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Circulating microRNAs and long non-coding RNAs in gastric cancer diagnosis: An update and review

(2015) Ya-Kai Huang   WORLD JOURNAL OF GASTROENTEROLOGY

Establishment of maturity-onset diabetes of the young-induced pluripotent stem cells from a Japanese patient

(2015) Shigeharu G Yabe et al.   Journal of Diabetes Investigation

MicroRNA-224 is Readily Detectable in Urine of Individuals with Diabetes Mellitus and is a Potential Indicator of Beta-Cell Demise

(2015) Siobhán Bacon et al.   Genes

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

(2015) Julien Philippe et al.   PLoS One

Generation of Functional Human Pancreatic β Cells In Vitro

(2014) Felicia W. Pagliuca et al.   CELL

Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

(2014) D. Simaite et al.   DIABETES

Lessons from whole-exome sequencing in MODYX families

(2014) Petra Dusatkova et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

(2014) Stephanie S Weinreich et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical utility gene card for: Maturity-onset diabetes of the young

(2014) Kevin Colclough et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Prevalence of Vascular Complications Among Patients With Glucokinase Mutations and Prolonged, Mild Hyperglycemia

(2014) Anna M. Steele et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Current and Best Practices of Genetic Testing for Maturity Onset Diabetes of the Young: Views of Professional Experts

(2014) Angeli M. van der Zwaag et al.   Public Health Genomics

Pluripotent Stem Cells as a Potential Tool for Disease Modelling and Cell Therapy in Diabetes

(2014) Essam M. Abdelalim et al.   Stem Cell Reviews and Reports

 -Cell Dysfunction Due to Increased ER Stress in a Stem Cell Model of Wolfram Syndrome

(2013) L. Shang et al.   DIABETES

Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications

(2013) Rochelle N. Naylor et al.   DIABETES CARE

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

Identification of circulating microRNAs in HNF1A-MODY carriers

(2013) C. Bonner et al.   DIABETOLOGIA

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

(2013) S. Ellard et al.   DIABETOLOGIA

Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry

(2013) H. U. Irgens 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

Derivation of Human Induced Pluripotent Stem Cells from Patients with Maturity Onset Diabetes of the Young

(2013) Adrian K. K. Teo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

iPSC-derived β cells model diabetes due to glucokinase deficiency

(2013) Haiqing Hua et al.   JOURNAL OF CLINICAL INVESTIGATION

The Influence of Dietary Carbohydrate Content on Glycaemia in Patients with Glucokinase Maturity-Onset Diabetes of the Young

(2013) T Klupa et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

(2013) Kanetee Busiah et al.   Lancet Diabetes & Endocrinology

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

(2012) Martine Vaxillaire et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Co-inheritance ofHNF1aandGCKmutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing

(2012) M. P. López-Garrido et al.   CLINICAL ENDOCRINOLOGY

Metabolite Profiling Reveals Normal Metabolic Control in Carriers of Mutations in the Glucokinase Gene (MODY2)

(2012) P. Spegel et al.   DIABETES

Visuomotor Performance in KCNJ11-Related Neonatal Diabetes Is Impaired in Children With DEND-Associated Mutations and May Be Improved by Early Treatment With Sulfonylureas

(2012) R. P. Shah et al.   DIABETES CARE

Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young

(2012) G. Thanabalasingham et al.   DIABETES CARE

Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes

(2012) A. Bonnefond et al.   DIABETOLOGIA

Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign

(2012) W. Fendler et al.   DIABETOLOGIA

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

MODY

(2011) Stefan S. Fajans et al.   DIABETES CARE

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331INSMutation Found in Neonatal Diabetes Mellitus

(2011) Amélie Bonnefond et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dipeptidyl Peptidase-IV Inhibitors Are Efficient Adjunct Therapy in HNF1A Maturity-Onset Diabetes of the Young Patients—Report of Two Cases

(2010) Barbara Katra et al.   Diabetes Technology & Therapeutics

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

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

SYMPOSIUM REVIEW: The role of the KATPchannel in glucose homeostasis in health and disease: more than meets the islet

(2010) James S. McTaggart et al.   JOURNAL OF PHYSIOLOGY-LONDON

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene

(2010) Julie Støy et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Neonatal diabetes mellitus: A model for personalized medicine

(2010) Siri Atma W. Greeley et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Long-Term Follow-Up of Oral Glucose Tolerance Test-Derived Glucose Tolerance and Insulin Secretion and Insulin Sensitivity Indexes in Subjects With Glucokinase Mutations (MODY2)

(2008) D. Martin et al.   DIABETES CARE

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

(2008) S. Ellard et al.   DIABETOLOGIA

Monogenic Diabetes in the Young, Pharmacogenetics and Relevance to Multifactorial Forms of Type 2 Diabetes

(2008) Martine Vaxillaire et al.   ENDOCRINE REVIEWS