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

Quantifying single nucleotide variant detection sensitivity in exome sequencing

(2013) Alison M Meynert et al.   BMC BIOINFORMATICS

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

(2012) Isabelle Schrauwen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic determinants of common obesity and their value in prediction

(2012) Ruth J.F. Loos   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

The Genetic and Epigenetic Basis of Type 2 Diabetes and Obesity

(2012) A W Drong et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

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

(2012) Amélie Bonnefond et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

The Cost-Effectiveness of Personalized Genetic Medicine: The case of genetic testing in neonatal diabetes

(2011) S. A. W. Greeley et al.   DIABETES CARE

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Genetic approaches to understanding human obesity

(2011) Shwetha Ramachandrappa et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

(2010) Amélie Bonnefond et al.   PLoS One

The emerging genetics of type 2 diabetes

(2010) Amélie Bonnefond et al.   TRENDS IN MOLECULAR MEDICINE