Jennifer A. Lee

This paper develops a genome-wide cardiovascular disease genetic risk assessment test that includes monogenic conditions, risk alleles, pharmacogenomic variants, and polygenic risk scores, showing high performance and scalability.

The paper investigates missense mutations in PREPL in CMS22 patients, showing they affect non-hydrolytic functions without impairing hydrolase activity.

The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.

The paper reports a new clinical syndrome linked to ACTB mutations, characterized by thrombocytopenia, microcephaly, and developmental disability, and identifies altered cytoskeletal interactions in affected cells.