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.