Publications by authors named "E J Higginbotham"
Purpose: To determine the rate of visual field (VF) loss before and after the diagnosis of primary open angle glaucoma (POAG) in the Ocular Hypertension Treatment Study (OHTS).
Design: Pre-specified analyses of data collected prospectively in a clinical trial with extended follow-up.
Setting And Participants: Participants who developed POAG during OHTS 1 and 2 (February 1994 to December 2008) constitute an inception cohort.
Article Synopsis
- Rare structural variations, particularly copy number variants, are found in 5%-10% of autism spectrum disorder (ASD) families, often requiring advanced methods for precise detection and characterization of genomic breakpoints.
- Using Oxford Nanopore's PromethION long-read genome sequencing, researchers successfully identified and characterized complex genomic rearrangements (CGRs) in five ASD-affected families, resolving all breakpoint junctions but leaving some genomic architectures unresolved.
- The study revealed potential fusion genes due to duplications and identified a shared rearrangement in two families, suggesting a common ancestor, while also analyzing methylation patterns to understand gene activity related to these rearrangements.
Importance: If preperimetric glaucoma reduces patient-reported vision-related quality of life (VRQoL), clinicians might consider earlier and more aggressive treatment of some patients with ocular hypertension and early glaucoma.
Objective: To determine the impact of preperimetric glaucoma and early glaucomatous visual field (VF) loss on participants' VRQoL compared with participants who did not develop glaucoma in the Ocular Hypertension Treatment Study (OHTS).
Design, Setting, And Participants: This cross-sectional study used data from participants enrolled in the OHTS from 1994 to 1996 who completed 20-year examination follow-up and VRQoL surveys from January 7, 2016, to November 19, 2019.
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.
View Article and Find Full Text PDF