Publications
Artificial Intelligence and Cardiovascular Genetics. Life (Basel). 2022 ;12(2).
. Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genet Med. 2021 ;23(12):2404-2414.
. Genomic considerations for FHIR®; eMERGE implementation lessons. J Biomed Inform. 2021 ;118:103795.
. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 ;23(10):1838-1846.
. ARBoR: an identity and security solution for clinical reporting. J Am Med Inform Assoc. 2019 ;26(11):1370-1374.
. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 ;176(6):1315-1326.
. The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. Mayo Clin Proc. 2018 ;93(11):1600-1610.
. Generating Clinical Reports from Genomic Data on the Cloud-based Neptune Platform [Internet]. Phoenix: ACMG Annual Clinical Genetics Meeting 2017; 2017. http://epostersonline.com/acmg2017/node/2480
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