PURPOSE Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean fam...

Whole-exome sequencing (WES) has been increasingly useful for the diagnosis of patients with rare causes of anemia, particularly when there is an atypical clinical presentation or targeted genotyping approaches are inconclusive. Here, we describe a 20-yr-old man with a lifelong moderate-to-severe anemia with accompanying splenomegaly who lacked a definitive diagnosis. After a thorough clinical ...

Autism spectrum disorders (ASD) is characterized by three core symptoms with impaired reciprocal social interaction and communication, a pattern of repetitive behavior and/or restricted interests in early childhood. The prevalence is higher in male children than in female children. As a complex neurodevelopmental disorder, the phenotype and severity of autism are extremely heterogeneous with di...

BACKGROUND/AIMS The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. METHODS DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onse...

BACKGROUND NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD). METHODS A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. Initial prioritization analysis included around 300...

OBJECTIVE To develop a comprehensive and efficient assessment tool for rheumatic condition-related work barriers and explore its use by physical and occupational therapists. METHODS Literature on arthritis work barriers was examined, followed by the collection of qualitative data on work barriers from patients with rheumatic conditions. A tool called the Work Experience Survey-Rheumatic Condi...

BACKGROUND With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES) when considering their first-tier testing approach. Here, we use an in silico analysis to predict ...

I argue that, contrary to the opinion of Wes Morriston, William Rowe, and others, a supremely perfect God, if one should exist, would be the freest of all beings and would represent the clearest example of what it means to act freely. I suggest further that, if we regard human freedom as a reflection of God’s ideal freedom, we can avoid some of the pitfalls in both the standard libertarian and ...