Alanna Strong

The paper identifies ciliary proteins that regulate melanogenesis in melanocytes and reveals moonlighting roles for Joubert Syndrome proteins in endolysosomal organization.

The paper estimates penetrance of disease variants in genes prioritized for genomic newborn screening using adult biobank data, finding higher penetrance than ICD codes suggest.

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.

This study assesses neurocognitive function in adults with Maple Syrup Urine Disease (MSUD) and links it to functional outcomes, finding that executive and adaptive deficits correlate with reduced independence.

This study identifies A1CF as a regulator of plasma triglycerides through posttranscriptional control of VLDL secretion and intracellular stress pathways.