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

Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes

(2010) E. Mornet et al.   CLINICAL GENETICS

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

(2008) Ivan P. Gorlov 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

Multiple Rare Nonsynonymous Variants in the Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas

(2008) D. Azzopardi et al.   CANCER RESEARCH

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

(2008) Hylke M Blauw et al.   LANCET NEUROLOGY

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

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

(2008) Weizhen Ji et al.   NATURE GENETICS

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE