Visualizing genomic information across chromosomes with PhenoGram

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Lucia A. Hindorff, Praveen Sethupathy, Heather Junkins et al. · Proceedings of the National Academy of Sciences · 2009 · 4.1K citations

Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei et al. · Nature · 2010 · 2K citations · Full text

Autism Spectrum Disorders, Syndromic Autism, Genetics +4

Identifying Recent Adaptations in Large-Scale Genomic Data

Sharon R. Grossman, Kristian G. Andersen, Ilya Shlyakhter et al. · Cell · 2013 · 386 citations · Full text

Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network

Sarah A. Pendergrass, Kristin Brown‐Gentry, Scott Dudek et al. · PLoS Genetics · 2013 · 189 citations · Full text

The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery

Sarah A. Pendergrass, Kristin Brown‐Gentry, Scott Dudek et al. · Genetic Epidemiology · 2011 · 181 citations · Full text