Background: Implicit in the genetic evaluation of patients with suspected genetic diseases is
the assumption that the genes evaluated are causative for the disease based on robust …

Refractive error is the most common eye disorder worldwide and is a prominent cause of
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …

… It is also possible that a patient’s participation in this study affected the clinician’s genetic
testing strategy. An alternative (trio-based) study design that facilitates prioritization of de novo …

Refractive errors, including myopia, are the most frequent eye disorders worldwide and an
increasingly common cause of blindness. This genome-wide association meta-analysis in …

Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes
and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or …

Background— Elevated serum soluble E-selectin levels have been associated with a
number of diseases. Although E-selectin levels are heritable, little is known about the specific …

Intraocular pressure (IOP) is a highly heritable risk factor for primary open-angle glaucoma
and is the only target for current glaucoma therapy. The genetic factors which determine IOP …

Refractive errors are common eye disorders of public health importance worldwide. Ocular
axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We …

Myopia is the most common human eye disorder and it results from complex genetic and
environmental causes. The rapidly increasing prevalence of myopia poses a major public …

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual
impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci …