Publications by authors named "J Ben Lawlor"

Alzheimer's disease (AD) is a form of dementia in which memory and cognitive decline is thought to arise from underlying neurodegeneration. These cognitive impairments, however, are transient when they first appear and can fluctuate across disease progression. Here, we investigate the neural mechanisms underlying fluctuations of performance in amnestic mice.

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Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool that leverages PacBio HiFi sequence data to diplotype 21 CPIC Level A pharmacogenes and provides detailed haplotypes and supporting visualizations for , , and .

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Background: Complex and chronic lower extremity defects present a surgical challenge and can progress to eventual amputation if closure is not achieved. In addition to morbidity and mortality, these defects have a significant impact on patient quality of life and represent a substantial cost burden to the healthcare system. Ovine forestomach matrix (OFM) grafts are an advanced tissue scaffold option to supplement the surgical reconstruction ladder and may augment limb preservation in cases of complex lower extremity defects.

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Echolocating bats rely on rapid processing of auditory information to guide moment-to-moment decisions related to echolocation call design and flight path selection. The fidelity of sonar echoes, however, can be disrupted in natural settings due to occlusions, noise, and conspecific jamming signals. Behavioral sensorimotor adaptation to external blocks of relevant cues has been studied extensively, but little is known about adaptations that mitigate internal sensory flow interruption.

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Article Synopsis
  • Long-read genome sequencing (lrGS) offers more accurate and comprehensive variant detection for rare diseases compared to short-read genome sequencing (srGS), though its exact impact on diagnostic yield remains unclear.
  • In a study involving 96 individuals suspected of having genetic rare diseases, lrGS identified new or potentially relevant genetic variants in 16.7% of participants, with 9.4% possessing pathogenic or likely pathogenic variants.
  • While lrGS provided additional insights beyond what was captured by srGS, particularly with structural variations, the study suggests that growing lrGS datasets will further enhance diagnostic capabilities in the future.
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