Jennifer M. Puck

This paper adapts ACMG/AMP variant classification criteria for the non-protein-coding gene RMRP, resulting in a framework for classifying variants in cartilage-hair hypoplasia.

The paper uses CRISPR to assess the functional impact of IL2RG variants in human T cells, confirming known annotations and identifying novel loss-of-function mutations.

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 develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

The paper evaluates how parameter choices affect variant interpretation pipelines by systematically perturbing parameters and shows that certain choices significantly impact sensitivity and specificity.

This study evaluates the quality of exome sequencing from DNA extracted from dried blood spots (DBS) and finds it comparable to whole blood, with similar variant calling accuracy.