Julie A. Jurgens

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

The paper integrates multiple scRNA-seq datasets to create a comprehensive atlas of human pancreatic islets, identifying 13 cell populations and providing a resource for diabetes research.

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

The paper describes the Common Fund Data Ecosystem (CFDE), which integrates NIH Common Fund data resources to enable discovery, analysis, and collaboration across heterogeneous datasets.

The paper develops a cell type-aware framework to identify non-coding variants in Mendelian disorders by integrating single-cell multi-omic data and applying it to congenital cranial dysinnervation disorders.

The paper identifies three novel candidate genes for ocular congenital cranial dysinnervation disorders using zebrafish CRISPR screening and protein binding microarrays to assess variant functionality.

This study investigates the effects of PCYT1A variants on lipid metabolism, chondrocyte differentiation, and lipid droplet formation using cellular models and lipidomics.

This study shows that D1R and D5R receptors in renal proximal tubules cooperate through heterodimerization to regulate cAMP production and sodium transport, with fenoldopam enhancing their interaction.