Experimental evidence accumulated over decades has implicated epithelial–mesenchymal
plasticity (EMP), which collectively encompasses epithelial–mesenchymal transition and the …

Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in
the elderly. Since the first description of an association between FECD and common …

Comparative analysis of primate genomes within a phylogenetic context is essential for
understanding the evolution of human genetic architecture and primate diversity. We present …

Understanding the impact of rare variants is essential to understanding human health. We
analyze rare (MAF< 0.1%) variants against 4264 phenotypes in 49,960 exome-sequenced …

The corneal endothelial monolayer and associated Descemet's membrane (DM) complex is
a unique structure that plays an essential role in corneal function. Endothelial cells are …

Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are
among the most common congenital anomalies, but knowledge of the genetic basis of these …

Abstract The International Committee for Classification of Corneal Dystrophies (IC3D)
distinguishes between 22 distinct forms of corneal dystrophy which are predominantly …

Corneal dystrophies are broadly defined as inherited disorders that affect any layer of the
cornea and are usually progressive, bilateral conditions that do not have systemic effects …

Whole-genome sequencing is accelerating identification of noncoding variants that disrupt
gene expression, although reports of such regulatory variants implicated in disease remain …

Pathogenic variants in the highly conserved OVOL2 promoter region cause posterior
polymorphous corneal dystrophy (PPCD) 1 by inducing an ectopic expression of the …