Detecting Low Frequent Loss-of-Function Alleles in Genome Wide Association Studies with Red Hair Color as Example

Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies

(2010) Kai Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ProbABEL package for genome-wide association analysis of imputed data

(2010) Yurii S Aulchenko et al.   BMC BIOINFORMATICS

Loss-of-function variants in the genomes of healthy humans

(2010) D. G. MacArthur et al.   HUMAN MOLECULAR GENETICS

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

(2010) Masashi Akiyama   HUMAN MUTATION

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

Towards a complete resolution of the genetic architecture of disease

(2010) Andrew B. Singleton et al.   TRENDS IN GENETICS

The 1000 Genomes Project: new opportunities for research and social challenges

(2010) Marc Via et al.   Genome Medicine

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci

(2010) Fan Liu et al.   PLoS Genetics

The Rotterdam Study: 2010 objectives and design update

(2009) Albert Hofman et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation

(2009) Karol Estrada et al.   HUMAN MOLECULAR GENETICS

Intragenic deletion ofTRIM32in compound heterozygotes with sarcotubular myopathy/LGMD2H

(2009) Kristian Borg et al.   HUMAN MUTATION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Common Genetic Variation and Human Traits

(2009) David B. Goldstein   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia

(2008) Hirotaka Matsuo 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

To what extent do scans of non-synonymous SNPs complement denser genome-wide association studies?

(2008) David M Evans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Red hair is the null phenotype of MC1R

(2008) Kimberley A. Beaumont et al.   HUMAN MUTATION

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): Compound heterozygous mutation in the claudin 16 (CLDN16) gene

(2008) Geeta Hampson et al.   BMC Nephrology