Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies

Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes

(2010) Matthew Zawistowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Variant Association Analysis Methods for Complex Traits

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

Statistical Inference for a Two-Stage Outcome-Dependent Sampling Design with a Continuous Outcome

(2010) Haibo Zhou et al.   BIOMETRICS

Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population

(2010) Ying Lin et al.   BMC Medical Genetics

Genetic and functional analyses of aldosterone synthase gene C-344T polymorphism with essential hypertension

(2010) W-Q Niu et al.   JOURNAL OF HUMAN HYPERTENSION

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

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

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

Role of genetic variation in the cannabinoid type 1 receptor gene (CNR1) in the pathophysiology of human obesity

(2010) Dorit Schleinitz et al.   PHARMACOGENOMICS

A note on semiparametric efficient inference for two-stage outcome-dependent sampling with a continuous outcome

(2009) R. Song et al.   BIOMETRIKA

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Validating, augmenting and refining genome-wide association signals

(2009) John P. A. Ioannidis et al.   NATURE REVIEWS GENETICS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Genetic Variation in an Individual Human Exome

(2008) Pauline C. Ng et al.   PLoS Genetics