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

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

(2015) Sabrina Prudente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2015) Amélie Bonnefond et al.   Cell Metabolism

Therapeutic Challenges in Diabetes Prevention: We Have Not Found the “Exercise Pill”

(2015) S Srinivasan et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

(2015) Ali J. Chakera et al.   DIABETES CARE

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

Parlez-vous VUS?

(2015) Gregory M. Cooper   GENOME RESEARCH

Recent advances in understanding the genetic architecture of type 2 diabetes

(2015) Karen L. Mohlke et al.   HUMAN MOLECULAR GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE GENETICS

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

(2015) Kyle J Gaulton et al.   NATURE GENETICS

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

(2015) Melina Claussnitzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

(2015) Jennifer Wessel et al.   Nature Communications

Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

(2015) Anubha Mahajan et al.   PLoS Genetics

Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors

(2015) Martijn van de Bunt et al.   PLoS Genetics

New insights from monogenic diabetes for “common” type 2 diabetes

(2015) Divya Sri Priyanka Tallapragada et al.   Frontiers in Genetics

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2014) Rui Gao et al.   BMC GENETICS

Development and Applications of CRISPR-Cas9 for Genome Engineering

(2014) Patrick D. Hsu et al.   CELL

Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms

(2014) Melina Claussnitzer et al.   CELL

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

(2014) Almundher Al-Maawali et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A Novel Variant inCDKN1CIs Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

(2014) Sarah L. Kerns et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

(2014) Ida Moltke et al.   NATURE

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

(2014) Valgerdur Steinthorsdottir et al.   NATURE GENETICS

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

(2014) Lorenzo Pasquali et al.   NATURE GENETICS

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

(2014) Jason Flannick et al.   NATURE GENETICS

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

(2014) Anubha Mahajan et al.   NATURE GENETICS

Comprehensive mutational scanning of a kinasein vivoreveals substrate-dependent fitness landscapes

(2014) Alexandre Melnikov et al.   NUCLEIC ACIDS RESEARCH

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

(2014) A. R. Majithia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Central Role for GRB10 in Regulation of Islet Function in Man

(2014) Inga Prokopenko et al.   PLoS Genetics

Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

(2013) Kirk E. Lohmueller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

(2013) H. U. Irgens et al.   DIABETOLOGIA

Pathophysiology and treatment of type 2 diabetes: perspectives on the past, present, and future

(2013) Steven E Kahn et al.   LANCET

Genetics of diabetes – Are we missing the genes or the disease?

(2013) Leif Groop et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

Evaluating empirical bounds on complex disease genetic architecture

(2013) Vineeta Agarwala et al.   NATURE GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Monogenic Models: What Have the Single Gene Disorders Taught Us?

(2012) Tomasz Klupa et al.   Current Diabetes Reports

Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets

(2012) M. E. Travers et al.   DIABETES

Taxonomizing, sizing and overcoming the incidentalome

(2012) Isaac S. Kohane et al.   GENETICS IN MEDICINE

Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay

(2012) Alexandre Melnikov et al.   NATURE BIOTECHNOLOGY

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller et al.   NATURE GENETICS

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

(2012) Eli A Stahl et al.   NATURE GENETICS

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

(2012)   NATURE GENETICS

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

Exome Sequencing and Genetic Testing for MODY

(2012) Stefan Johansson et al.   PLoS One

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

(2012) Amélie Bonnefond et al.   PLoS One

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS Genetics

Clinical features and treatment of maturity onset diabetes of the young (MODY)

(2012) Daphne Gardner et al.   Diabetes Metabolic Syndrome and Obesity-Targets and Therapy

MODY

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

Heritability and familiality of type 2 diabetes and related quantitative traits in the Botnia Study

(2011) P. Almgren et al.   DIABETOLOGIA

Genetic Syndromes of Severe Insulin Resistance

(2011) Robert K. Semple et al.   ENDOCRINE REVIEWS

Genetic risk prediction in complex disease

(2011) Luke Jostins et al.   HUMAN MOLECULAR GENETICS

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

(2011) Kerrin S Small et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Global Epigenomic Analysis of Primary Human Pancreatic Islets Provides Insights into Type 2 Diabetes Susceptibility Loci

(2010) Michael L. Stitzel et al.   Cell Metabolism

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

(2010) L. Heidet et al.   Clinical Journal of the American Society of Nephrology

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

(2010) O. Rubio-Cabezas et al.   DIABETES

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

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

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

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

(2010) Benjamin F Voight et al.   NATURE GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

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

(2010) Amélie Bonnefond et al.   PLoS One

Familial Risks for Type 2 Diabetes in Sweden

(2009) K. Hemminki et al.   DIABETES CARE

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

New susceptibility locus for coronary artery disease on chromosome 3q22.3

(2009) Jeanette Erdmann et al.   NATURE GENETICS

The diagnosis and management of monogenic diabetes in children and adolescents

(2009) Andrew Hattersley et al.   PEDIATRIC DIABETES

Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3

(2009) A. Ragvin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Learning From Molecular Genetics: Novel Insights Arising From the Definition of Genes for Monogenic and Type 2 Diabetes

(2008) M. I. McCarthy et al.   DIABETES

Lack of pancreatic body and tail inHNF1Bmutation carriers

(2008) I. S. Haldorsen et al.   DIABETIC MEDICINE

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

(2008) Martine Vaxillaire et al.   ENDOCRINE REVIEWS

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE

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

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