Publications by authors named "Liam W Scott"
Article Synopsis
- Variance in optical mesoscopic probes limits applications, especially as smaller probes show greater relative variance.
- Specific viral protein cages, like the murine polyoma virus, can assemble efficiently and accurately, minimizing statistical fluctuations due to quality control.
- An approach leveraging this assembly results in multichromophore particles that produce brighter, more consistent fluorescence than existing fluorescent nanosphere probes, validated by mass spectrometry and fluorescence microscopy.
Article Synopsis
- Age-related macular degeneration (AMD) is a complex eye disease influenced by both genetic factors and involves a subtype called reticular pseudodrusen (RPD), which increases the risk of severe vision loss.* -
- A genome-wide association study compared genetic data from individuals with AMD and/or RPD to controls, finding significant associations specifically on chromosome 10, while chromosome 1 did not show this correlation in RPD cases.* -
- The chromosome 10 region includes a long non-coding RNA related to retinal health, highlighting its potential role in retinal thickness and influencing the outer segment of photoreceptors.*
Objective: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence-based recommendations for their integration into practice.
Methods: In total, 247 families with suspected monogenic neuromuscular disorders who remained without a genetic diagnosis after standard diagnostic investigations underwent research-led massively parallel sequencing: neuromuscular disorder gene panel, exome, genome, and/or RNA sequencing to identify causal variants.