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.
- Roberts, AM, DiStefano, MT, Riggs, ER, Josephs, KS, Alkuraya, FS, Amberger, J, Amin, M, Berg, JS, Cunningham, F, Eilbeck, K et al.. Towards robust clinical genome interpretation: developing a consistent terminology to characterize Mendelian disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. Genet Med 2023; : 101029. PubMed PMID:37982373 .
- Roberts, AM, DiStefano, MT, Riggs, ER, Josephs, KS, Alkuraya, FS, Amberger, J, Amin, M, Berg, JS, Cunningham, F, Eilbeck, K et al.. Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. medRxiv 2023; : . PubMed PMID:37066232 PubMed Central PMC10104222.
- Krzyzanowski, MC, Ives, CL, Jones, NL, Entwisle, B, Fernandez, A, Cullen, TA, Darity, WA Jr, Fossett, M, Remington, PL, Taualii, M et al.. The PhenX Toolkit: Measurement Protocols for Assessment of Social Determinants of Health. Am J Prev Med 2023; 65 (3): 534-542. PubMed PMID:36935055 PubMed Central PMC10505248.
- Manolio, TA, Narula, J, Bult, CJ, Chisholm, RL, Deverka, PA, Ginsburg, GS, Goldrich, M, Green, ED, Jarvik, GP, Mensah, GA et al.. Genomic Medicine Year in Review: 2022. Am J Hum Genet 2022; 109 (12): 2101-2104. PubMed PMID:36459977 PubMed Central PMC9808495.
- Pan, H, Bakalov, V, Cox, L, Engle, ML, Erickson, SW, Feolo, M, Guo, Y, Huggins, W, Hwang, S, Kimura, M et al.. Identifying Datasets for Cross-Study Analysis in dbGaP using PhenX. Sci Data 2022; 9 (1): 532. PubMed PMID:36050327 PubMed Central PMC9434066.
- DiStefano, MT, Goehringer, S, Babb, L, Alkuraya, FS, Amberger, J, Amin, M, Austin-Tse, C, Balzotti, M, Berg, JS, Birney, E et al.. The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med 2022; 24 (8): 1732-1742. PubMed PMID:35507016 PubMed Central PMC7613247.
- Hunter, JE, Jenkins, CL, Bulkley, JE, Gilmore, MJ, Lee, K, Pak, CM, Wallace, KE, Buchanan, AH, Foreman, AKM, Freed, AS et al.. ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. Genet Med 2022; 24 (6): 1328-1335. PubMed PMID:35341655 PubMed Central PMC9156571.
- Manolio, TA, Bult, CJ, Chisholm, RL, Deverka, PA, Ginsburg, GS, Goldrich, M, Jarvik, GP, Mensah, GA, Ramos, EM, Relling, MV et al.. Genomic medicine year in review: 2021. Am J Hum Genet 2021; 108 (12): 2210-2214. PubMed PMID:34861172 PubMed Central PMC8715274.
- Cox, LA, Hwang, S, Haines, J, Ramos, EM, McCarty, CA, Marazita, ML, Engle, ML, Hendershot, T, Pan, HH, Hamilton, CM et al.. Using the PhenX Toolkit to Select Standard Measurement Protocols for Your Research Study. Curr Protoc 2021; 1 (5): e149. PubMed PMID:34038028 PubMed Central PMC8251725.
- Chung, WK, Brothers, K, Bradbury, A, Chanprasert, S, Orlando, L, Torkamani, A, Zierhut, H, Ritchie, MD, Phillips, M, Schoden, J et al.. Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection. Genet Med 2021; 23 (9): 1783-1788. PubMed PMID:33972721 PubMed Central PMC8108409.