Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans

Transcriptome study of differential expression in schizophrenia

(2013) Alan R. Sanders et al.   HUMAN MOLECULAR GENETICS

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans

(2012) August Blackburn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mapping cis- and trans-regulatory effects across multiple tissues in twins

(2012) Elin Grundberg et al.   NATURE GENETICS

Update on activities at the Universal Protein Resource (UniProt) in 2013

(2012)   NUCLEIC ACIDS RESEARCH

famCNV: copy number variant association for quantitative traits in families

(2011) H. Eleftherohorinou et al.   BIOINFORMATICS

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

(2011) A. Schlattl et al.   GENOME RESEARCH

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia

(2011) Moira A. Crowley et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci

(2011) Eric R. Gamazon et al.   PLoS Genetics

Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection

(2011) Omer Gokcumen et al.   GENOME BIOLOGY

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Two new  -thalassemia deletions compromising prenatal diagnosis in an Italian and a Turkish couple seeking prevention

(2009) M. Phylipsen et al.   HAEMATOLOGICA

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS GENETICS

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A robust statistical method for case-control association testing with copy number variation

(2008) Chris Barnes et al.   NATURE GENETICS

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

(2008) David Geneviève et al.   NATURE GENETICS