Dozens of variants in the gene for the homeodomain transcription factor (TF) cone-rod
homeobox (CRX) are linked with human blinding diseases that vary in their severity and age of …

The epidermal differentiation complex (EDC) locus consists of a cluster of genes important
for the terminal differentiation of the epidermis. While early studies identified the functional …

The epidermal differentiation complex (EDC) locus comprises a syntenic and linear cluster
of genes whose concomitant expression is a hallmark feature of differentiation in the …

The genetic modules that contribute to human evolution are poorly understood. Here we
investigate positive selection in the Epidermal Differentiation Complex locus for skin barrier …

Objective Accurately identifying clinical phenotypes from Electronic Health Records (EHRs)
provides additional insights into patients’ health, especially when such information is …

Study Design. Retrospective cohort. Objective. The aim of this study was to design a risk-stratified
benchmarking tool for adolescent idiopathic scoliosis (AIS) surgeries. Summary of …

The identification of regulatory elements for a given target gene poses a significant technical
challenge owing to the variability in the positioning and effect sizes of regulatory elements …

Inherited retinal degenerations are diverse and debilitating blinding diseases. Genetic tests
and exome sequencing have identified mutations in many protein-coding genes associated …

Objectives There is much interest in utilizing clinical data for developing prediction models
for Alzheimer’s disease (AD) risk, progression, and outcomes. Existing studies have mostly …

The genetic modules that contribute to human evolution are poorly understood. We identified
positive selection for two independent involucrin (IVL) haplotypes in European (CEU) and …