Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

(2012) Armand Valsesia et al.   BMC GENOMICS

The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals

(2012) Martin Ladouceur et al.   PLoS Genetics

Heritability and Genetic Correlations Explained by Common SNPs for Metabolic Syndrome Traits

(2012) Shashaank Vattikuti et al.   PLoS Genetics

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

(2011) Josephine Elia et al.   NATURE GENETICS

Accuracy of CNV Detection from GWAS Data

(2011) Dandan Zhang et al.   PLoS One

Eight Common Genetic Variants Associated with Serum DHEAS Levels Suggest a Key Role in Ageing Mechanisms

(2011) Guangju Zhai et al.   PLoS Genetics

A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases

(2010) Joseph T. Glessner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Variant Association Analysis Methods for Complex Traits

(2010) Jennifer Asimit et al.   Annual Review of Genetics

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Evolutionary evidence of the effect of rare variants on disease etiology

(2010) IP Gorlov et al.   CLINICAL GENETICS

Large Copy-Number Variations Are Enriched in Cases With Moderate to Extreme Obesity

(2010) K. Wang et al.   DIABETES

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Cohort Profile: The Study of Health in Pomerania

(2010) H. Volzke et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

(2010) Yukihide Momozawa et al.   NATURE GENETICS

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

(2010) Iris M Heid et al.   NATURE GENETICS

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

(2010) Christopher T Johansen et al.   NATURE GENETICS

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

(2010) Elizabeth K Speliotes et al.   NATURE GENETICS

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

(2010) Jian Yang 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

cnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs

(2010) Lachlan J M Coin et al.   NATURE METHODS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

Novel Association Strategy with Copy Number Variation for Identifying New Risk Loci of Human Diseases

(2010) Xianfeng Chen et al.   PLoS One

The Effect of Algorithms on Copy Number Variant Detection

(2010) Debby W. Tsuang et al.   PLoS One

Comprehensive Approach to Analyzing Rare Genetic Variants

(2010) Thomas J. Hoffmann et al.   PLoS One

Genotyping and inflated type I error rate in genome-wide association case/control studies

(2009) Joshua N Sampson et al.   BMC BIOINFORMATICS

Common Variation in SIM1 Is Reproducibly Associated With BMI in Pi ma Indians

(2009) M. Traurig et al.   DIABETES

SH2B1 Enhances Insulin Sensitivity by Both Stimulating the Insulin Receptor and Inhibiting Tyrosine Dephosphorylation of Insulin Receptor Substrate Proteins

(2009) D. L. Morris et al.   DIABETES

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

(2009) Bao-Yong Sha et al.   JOURNAL OF HUMAN GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Human-specific transcriptional regulation of CNS development genes by FOXP2

(2009) Genevieve Konopka et al.   NATURE

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

(2009) David Meyre et al.   NATURE GENETICS

The genetic contribution to non-syndromic human obesity

(2009) Andrew J. Walley et al.   NATURE REVIEWS GENETICS

Genetic Structure of Europeans: A View from the North–East

(2009) Mari Nelis et al.   PLoS One

Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: Methodological considerations

(2009) Steven G. Potkin et al.   Cognitive Neuropsychiatry

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

(2008) Chiara Sabatti et al.   NATURE GENETICS

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

The Power of the Extreme in Elucidating Obesity

(2008) Philippe Froguel et al.   NEW ENGLAND JOURNAL OF MEDICINE

INS VNTR Is Not Associated With Childhood Obesity in 1,023 Families: A Family-based Study

(2008) Nabila Bouatia-Naji et al.   Obesity