Exome Sequencing and Genetic Testing for MODY

Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies

(2016) Sven Pörksen et al.   BMC Endocrine Disorders

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes

(2011) R. J. Strawbridge et al.   DIABETES

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

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

Type 2 diabetes risk allele near CENTD2 is associated with decreased glucose-stimulated insulin release

(2011) T. Nielsen et al.   DIABETOLOGIA

Heterozygous ABCC8 mutations are a cause of MODY

(2011) P. Bowman et al.   DIABETOLOGIA

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Physiologic Characterization of Type 2 Diabetes–Related Loci

(2010) Niels Grarup et al.   Current Diabetes Reports

Detailed Physiologic Characterization Reveals Diverse Mechanisms for Novel Genetic Loci Regulating Glucose and Insulin Metabolism in Humans

(2010) E. Ingelsson et al.   DIABETES

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

(2010) Benjamin F Voight et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genomics, Type 2 Diabetes, and Obesity

(2010) Mark I. McCarthy   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

(2010) Amélie Bonnefond et al.   PLoS One

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene

(2009) A. M. Steele et al.   DIABETIC MEDICINE

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

(2009) Kara K. Osbak et al.   HUMAN MUTATION

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

The Krüppel-like zinc finger protein Glis3 directly and indirectly activates insulin gene transcription

(2009) Yisheng Yang et al.   NUCLEIC ACIDS RESEARCH

The diagnosis and management of monogenic diabetes in children and adolescents

(2009) Andrew Hattersley et al.   PEDIATRIC DIABETES

The Diabetic Phenotype in HNF4A Mutation Carriers Is Moderated By the Expression of HNF4A Isoforms From the P1 Promoter During Fetal Development

(2008) L. W. Harries et al.   DIABETES

On the origin of the   cell

(2008) J. M. Oliver-Krasinski et al.   GENES & DEVELOPMENT

Update of mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

(2008) Sarah E. Flanagan et al.   HUMAN MUTATION

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

(2008) Eleftheria Zeggini et al.   NATURE GENETICS

Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

(2008) Rinki Murphy et al.   Nature clinical practice. Endocrinology & metabolism