Publications
Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 ;16(2):e003816.
. Genetic Sex Validation for Sample Tracking in Clinical Testing. Res Sq. 2023 ;.
. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 ;8(6):835-844.
. Genomic considerations for FHIR®; eMERGE implementation lessons. J Biomed Inform. 2021 ;118:103795.
. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Am J Hum Genet. 2020 ;107(5):932-941.
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