A full list of publications can be found here
Selected publications on genomic medicine
Implementing genomic screening in diverse populations
Genome Med. 2021 Feb 5;13(1):17. doi: 10.1186/s13073-021-00832-y. PMID: 33546753; PMCID: PMC7863616.
Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis
J Pers Med. 2021 Jan 15;11(1):49. doi: 10.3390/jpm11010049. PMID: 33467513; PMCID: PMC7829706.
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1. PMID: 31892343; PMCID: PMC6938627.
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Science. 2016 Dec 23;354(6319):aaf7000. doi: 10.1126/science.aaf7000. PMID: 28008010.
Selected publications on genomics research using EHRs
Personalized Medicine and the Power of Electronic Health Records
Cell. 2019 Mar 21;177(1):58-69. doi: 10.1016/j.cell.2019.02.039. PMID: 30901549; PMCID: PMC6921466.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191. PMID: 29562163; PMCID: PMC6668033.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. PMID: 28008009.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records
JAMA. 2016 Jan 5;315(1):47-57. doi: 10.1001/jama.2015.17701. PMID: 26746457; PMCID: PMC4758131.