Previous Positions
Crawford Graduate Student (2010-2015)
Post-Doctoral Fellow at Case Western Reserve University (2015-2017)
Bioinformatics Staff Scientist, Geisinger Health System (2017-2018)
Statistical genetics consultant, Decibel Therapeutics (2019-2020)
Current Position
Genomics Scientist, Seven Bridges (2020-present)
Research Interests
Nicole’s graduate research was focused on identifying genetic variation and genetic and environmental modifiers contributing to ocular disease (age-related macular degeneration, diabetic retinopathy, and glaucoma) in diverse populations. More broadly, Nicole’s research interests include statistical and bioinformatic approaches to the analysis of genetic and environmental data, gene-gene and gene-environment interactions, inclusion of underrepresented populations in biomedical research, and personalized medicine.
Recent Publications
- Zheutlin, AB, Dennis, J, Karlsson Linnér, R, Moscati, A, Restrepo, N, Straub, P, Ruderfer, D, Castro, VM, Chen, CY, Ge, T et al.. Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems. Am J Psychiatry 2019; 176 (10): 846-855. PubMed PMID:31416338 PubMed Central PMC6961974.
- Restrepo, NA, Laper, SM, Farber-Eger, E, Crawford, DC. Local genetic ancestry in CDKN2B-AS1 is associated with primary open-angle glaucoma in an African American cohort extracted from de-identified electronic health records. BMC Med Genomics 2018; 11 (Suppl 3): 70. PubMed PMID:30255811 PubMed Central PMC6157155.
- Crawford, DC, Restrepo, NA, Diggins, KE, Farber-Eger, E, Wells, QS. Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels. BMC Med Genomics 2018; 11 (Suppl 3): 66. PubMed PMID:30255797 PubMed Central PMC6156840.
- Sahni, JM, Gayle, SS, Webb, BM, Weber-Bonk, KL, Seachrist, DD, Singh, S, Sizemore, ST, Restrepo, NA, Bebek, G, Scacheri, PC et al.. Mitotic Vulnerability in Triple-Negative Breast Cancer Associated with LIN9 Is Targetable with BET Inhibitors. Cancer Res 2017; 77 (19): 5395-5408. PubMed PMID:28807940 PubMed Central PMC5626629.
- Hollister, BM, Restrepo, NA, Farber-Eger, E, Crawford, DC, Aldrich, MC, Non, A. DEVELOPMENT AND PERFORMANCE OF TEXT-MINING ALGORITHMS TO EXTRACT SOCIOECONOMIC STATUS FROM DE-IDENTIFIED ELECTRONIC HEALTH RECORDS. Pac Symp Biocomput 2017; 22 : 230-241. PubMed PMID:27896978 PubMed Central PMC5147499.
- Restrepo, NA, Butkiewicz, M, McGrath, JA, Crawford, DC. Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records. Front Genet 2016; 7 : 185. PubMed PMID:27812365 PubMed Central PMC5071319.
- Restrepo, NA, Farber-Eger, E, Crawford, DC. Searching in the Dark: Phenotyping Diabetic Retinopathy in a De-Identified Electronic Medical Record Sample of African Americans. AMIA Jt Summits Transl Sci Proc 2016; 2016 : 221-30. PubMed PMID:27570675 PubMed Central PMC5001772.
- Butkiewicz, M, Restrepo, NA, Haines, JL, Crawford, DC. DRUG-DRUG INTERACTION PROFILES OF MEDICATION REGIMENS EXTRACTED FROM A DE-IDENTIFIED ELECTRONIC MEDICAL RECORDS SYSTEM. AMIA Jt Summits Transl Sci Proc 2016; 2016 : 33-40. PubMed PMID:27570646 PubMed Central PMC5001747.
- Laper, SM, Restrepo, NA, Crawford, DC. THE CHALLENGES IN USING ELECTRONIC HEALTH RECORDS FOR PHARMACOGENOMICS AND PRECISION MEDICINE RESEARCH. Pac Symp Biocomput 2016; 21 : 369-80. PubMed PMID:26776201 PubMed Central PMC4720980.
- Dumitrescu, L, Restrepo, NA, Goodloe, R, Boston, J, Farber-Eger, E, Pendergrass, SA, Bush, WS, Crawford, DC. Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry. BioData Min 2015; 8 : 35. PubMed PMID:26566401 PubMed Central PMC4642611.