Ingrid A. Holm

The paper explores professional perspectives on the value and feasibility of lifelong genomic medicine through interviews with 52 US-based professionals.

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

This study explores health care professionals' views on the timing of returning genomic newborn screening results, finding parental choice is most endorsed but requires support for disclosure to children.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

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 evaluates two self-phenotyping tools, showing that GenomeConnect provides more accurate phenotype profiles while Phenotypr offers greater precision and user preference for its autocomplete format.

This study evaluates the impact of genetic diagnosis on parent-reported and clinical outcomes for critically ill infants in the NICU over one year.

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 study investigates the association between polygenic risk scores for blood pressure traits and preeclampsia, finding shared genetic architecture but no improvement in prediction models.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

This paper describes the Rare Genomes Project's efforts to address inequities in rare disease genomics by diversifying enrollment and understanding barriers to access.

The paper evaluates unanticipated monogenic disease risks found in newborns through genomic screening, finding most risks are actionable and lead to medical interventions.

This study identifies pathogenic sodium channel variants in SUDP patients and shows they cluster at conserved amino acid sites across the SCN gene family.