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

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

(2012) Alexander G. Bick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Taxonomizing, sizing and overcoming the incidentalome

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

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Exome Sequencing and Genetic Testing for MODY

(2012) Stefan Johansson et al.   PLoS One

A public resource facilitating clinical use of genomes

(2012) Madeleine P. Ball et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-Genome Sequencing: The New Standard of Care?

(2012) L. R. Brunham et al.   SCIENCE

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

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

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes

(2011) E. L. Edghill et al.   DIABETIC MEDICINE

GATA6 haploinsufficiency causes pancreatic agenesis in humans

(2011) Hana Lango Allen et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

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

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

A universal carrier test for the long tail of Mendelian disease

(2010) Balaji S. Srinivasan et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

10-year follow-up of diabetes incidence and weight loss in the Diabetes Prevention Program Outcomes Study

(2009)   LANCET

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mutations at the BLK locus linked to maturity onset diabetes of the young and  -cell dysfunction

(2009) M. Borowiec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes

(2008) A. Molven et al.   DIABETES

Lack of pancreatic body and tail inHNF1Bmutation carriers

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

Prevalence ofHNF1A(MODY3) mutations in a Norwegian population (the HUNT2 Study)

(2008) S. . Eide et al.   DIABETIC MEDICINE

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

(2008) S. Ellard et al.   DIABETOLOGIA

The A98V Single Nucleotide Polymorphism (SNP) in Hepatic Nuclear Factor 1 α (HNF-1α) is Associated with Insulin Sensitivity and β-Cell Function

(2008) A. Bergmann et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

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

Variation of Breast Cancer Risk Among BRCA1/2 Carriers

(2008) Colin B. Begg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Diagnostic screening of MODY2/GCKmutations in the Norwegian MODY Registry

(2008) Jørn V Sagen et al.   PEDIATRIC DIABETES

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

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