Publications by authors named "J A Madden"

Incontinentia pigmenti (IP) is caused by loss-of-function variants in , with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical testing in whom long-read sequencing identified causal variants. Concurrent methylation analysis explained disease severity in one individual who died from neurologic complications, identified a mosaic variant in an individual with an atypical presentation, and confirmed skewed X-chromosome inactivation in an XXY individual.

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Dielectric polymers, particularly thermally stable synthetic types, play a crucial role in capacitors, circuit boards, insulators, and high-frequency devices. However, they also contribute significantly to electronic waste, making up approximately 20% of the 74.7 million metric tons of e-waste generated each year.

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Although every youth in pediatric/adolescent HIV care will need to transition to adult-oriented care, there are no existing evidence-based interventions to optimize health through this process. Healthcare transition poses a persistent challenge to the health of youth living with HIV, which may result in gaps in care engagement, medication adherence, and viral suppression. Our process evaluation of , a multilevel mobile health (mHealth) intervention, included iterative interviews with youth, providers, and Transition Champions.

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Article Synopsis
  • Over two decades, initiatives have aimed to enhance STEM undergraduate outcomes, with the inclusive Research Education Community (iREC) emerging as a scalable reform model that supports STEM faculty in implementing course-based research to improve student learning.
  • This study utilized pathway modeling to describe the HHMI Science Education Alliance (SEA) iREC, identifying how faculty engagement leads to sustainable adoption and improvement of new teaching strategies through feedback from over 100 participating faculty members.
  • The findings indicate that iREC fosters a collaborative environment where STEM faculty can share expertise and data, thereby enhancing their teaching practices and contributing to the overall evolution of undergraduate science education.
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