Nina B. Gold

The paper evaluates a reproductive genetic screening framework that includes genes with perinatal intervention potential, finding an individual-level number-needed-to-screen of 3.20 using gnomAD and 3.62 using All of Us.

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.

The paper explores parental perspectives on genomic sequencing research participation among under-represented racial and ethnic groups, finding high interest but identifying barriers to enrollment.

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 evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.