Jessica I. Gold

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.

This study analyzes genetic testing outcomes and utilization patterns in 10,000 adult patient encounters, finding high diagnostic yield and indication-specific variation in test results.

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 finds that universal exome sequencing in critically ill adults yields a 25% diagnostic rate and highlights race-based disparities in genetic diagnosis documentation.