Dr. Erin M. Ramos is an epidemiologist in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI). She manages a portfolio of research in population genomics including a collaborative project to develop a set of standardized phenotypic and exposure measures for use in genome-wide association studies and related research (PhenX). She also manages the Clinical Genome Resource (ClinGen), which aims to collect phenotypic and clinical information on variants across the genome, develop a consensus approach to identify clinically relevant genetic variants, and disseminate information about the variants to researchers and clinicians. Dr. Ramos previously served as the chair of the Data Access Committee (DAC) for the Genetic Association Information Network (GAIN) and as a member of NHGRI's DAC.
Dr. Ramos received her MPH and PhD in the multidisciplinary field of public health genetics from the University of Washington where her research focused on the genetic epidemiology of Alzheimer's disease and the ethical, legal, and social implications that surround genomics research. Her current research interests include the genetic epidemiology of dementia; genome-wide association studies and gene-environment interactions in complex disease; and Ethical, Legal and Social Implications (ELSI) research, including informed consent for large-scale genomic studies.
- Nicolas, G, Sanchez-Contreras, M, Ramos, EM, Lemos, RR, Ferreira, J, Moura, D, Sobrido, MJ, Richard, AC, Lopez, AR, Legati, A et al.. Brain calcifications and PCDH12 variants. Neurol Genet 2017; 3 (4): e166. PubMed PMID:28804758 PubMed Central PMC5530423.
- Malinowski, AK, Ananth, CV, Catalano, P, Hines, EP, Kirby, RS, Klebanoff, MA, Mulvihill, JJ, Simhan, H, Hamilton, CM, Hendershot, TP et al.. Research standardization tools: pregnancy measures in the PhenX Toolkit. Am. J. Obstet. Gynecol. 2017; 217 (3): 249-262. PubMed PMID:28578176 PubMed Central PMC5581223.
- Strande, NT, Riggs, ER, Buchanan, AH, Ceyhan-Birsoy, O, DiStefano, M, Dwight, SS, Goldstein, J, Ghosh, R, Seifert, BA, Sneddon, TP et al.. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am. J. Hum. Genet. 2017; 100 (6): 895-906. PubMed PMID:28552198 PubMed Central PMC5473734.
- Manolio, TA, Fowler, DM, Starita, LM, Haendel, MA, MacArthur, DG, Biesecker, LG, Worthey, E, Chisholm, RL, Green, ED, Jacob, HJ et al.. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell 2017; 169 (1): 6-12. PubMed PMID:28340351 PubMed Central PMC5511379.
- Wong, KM, Langlais, K, Tobias, GS, Fletcher-Hoppe, C, Krasnewich, D, Leeds, HS, Rodriguez, LL, Godynskiy, G, Schneider, VA, Ramos, EM et al.. The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data. Nucleic Acids Res. 2017; 45 (D1): D819-D826. PubMed PMID:27899644 PubMed Central PMC5210596.
- Hunter, JE, Irving, SA, Biesecker, LG, Buchanan, A, Jensen, B, Lee, K, Martin, CL, Milko, L, Muessig, K, Niehaus, AD et al.. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet. Med. 2016; 18 (12): 1258-1268. PubMed PMID:27124788 PubMed Central PMC5085884.
- Harrison, SM, Riggs, ER, Maglott, DR, Lee, JM, Azzariti, DR, Niehaus, A, Ramos, EM, Martin, CL, Landrum, MJ, Rehm, HL et al.. Using ClinVar as a Resource to Support Variant Interpretation. Curr Protoc Hum Genet 2016; 89 : 8.16.1-8.16.23. PubMed PMID:27037489 PubMed Central PMC4832236.
- Overby, CL, Heale, B, Aronson, S, Cherry, JM, Dwight, S, Milosavljevic, A, Nelson, T, Niehaus, A, Weaver, MA, Ramos, EM et al.. Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup. Clin. Pharmacol. Ther. 2016; 99 (2): 157-60. PubMed PMID:26418054 PubMed Central PMC4724305.
- Hendershot, T, Pan, H, Haines, J, Harlan, WR, Marazita, ML, McCarty, CA, Ramos, EM, Hamilton, CM. Using the PhenX Toolkit to Add Standard Measures to a Study. Curr Protoc Hum Genet 2015; 86 : 1.21.1-17. PubMed PMID:26132000 .
- Rehm, HL, Berg, JS, Brooks, LD, Bustamante, CD, Evans, JP, Landrum, MJ, Ledbetter, DH, Maglott, DR, Martin, CL, Nussbaum, RL et al.. ClinGen--the Clinical Genome Resource. N. Engl. J. Med. 2015; 372 (23): 2235-42. PubMed PMID:26014595 PubMed Central PMC4474187.