Determined and well-rounded individual with more than 10 years working as research scientist within healthcare industry. Sharp and focused professional offering skills in genetics and electronic health records data analysis.
Research projects:
Key Skills:
Research project:
Key skills:
Research Project:
Key skills:
Programming Language : Python, R Programming, Shell Scripting
Database : My SQL, SQL server
Other Software/ Tools: Integrative Genomics Viewer, AlamutVisual, PrismAmerican Society of Human Genetics, 2018-Present
Early research projects focused on understanding molecular signaling leading to the progression of prostate cancer.
Yang, X., Guo, Z., Sun, F., Li, W., Alfano, A., Shimelis, H., Chen, M., Brodie, A. M., Chen, H., Xiao, Z., et al. (2011). Novel membrane-associated androgen receptor splice variant potentiates proliferative and survival responses in prostate cancer cells. J Biol Chem 286, 36152-36160.
Xie, Y., Xu, K., Linn, D. E., Yang, X., Guo, Z., Shimelis, H., Nakanishi, T., Ross, D. D., Chen, H., Fazli, L., et al. (2008). The 44-kDa Pim-1 kinase phosphorylates BCRP/ABCG2 and thereby promotesits multimerization and drug-resistant activity in human prostate cancer cells. J Biol Chem 283, 3349-3356.
Xu, K., Shimelis, H., Linn, D. E., Jiang, R., Yang, X., Sun, F., Guo, Z., Chen, H., Li, W., Kong, X., et al. (2009). Regulation of androgen receptor transcriptional activity and specificity by RNF6-induced ubiquitination. Cancer Cell 15, 270-282.
Linn, D. E., Yang, X., Xie, Y., Alfano, A., Deshmukh, D., Wang, X., Shimelis, H., Chen, H., Li, W., Xu, K., et al. (2012). Differential regulation of androgen receptor by PIM-1 kinases via phosphorylation-dependent recruitment of distinct ubiquitin E3 ligases. J Biol Chem 287, 22959-22968.
Genetic studies that led to the identification of high- and moderate-risk breast cancer genes among those offered in multigene hereditary cancer panel testing.
Shimelis, H., Mesman, R. L. S., Von Nicolai, C.*, Ehlen, A.*, Guidugli, L., Martin, C., Calleja, F.,
Meeks, H., Hallberg, E., Hinton, J., et al. (2017). BRCA2 Hypomorphic Missense Variants Confer
Moderate Risks of Breast Cancer. Cancer Res 77, 2789-2799.
Couch, F. J., Shimelis, H., Hu, C.*, Hart, S. N., Polley, E. C., Na, J., Hallberg, E., Moore, R., Thomas, A., Lilyquist, J., et al. (2017). Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol.
Guidugli, L., Shimelis, H. , Masica, D.L., Pankratz, V.S., Lipton, G., Singh, N., Hu, C., Monteiro, A.N., Lindor, N.M., Karchin, R. et al. (2017). Assessment of the clinical relevance of BRCA2 missense variants by functional and computational approaches. Am J Hum Genet
Shimelis, H., LaDuca, H., Hu, C., Hart, S. N., Na, J., Thomas, A., Akinhanmi, M., Moore, R., Brauch, H., Cox, A., Eccles., et al. (2018). Triple Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing. J. Natl. Cancer Inst. 110, 855–862
Hu, C., Hart, S.N., Polley, E.C., Gnanaolivu, R., Shimelis, H., Lee, K.Y., Lilyquist, J., Na, J., Moore, R., Antwi, S.O., et al. (2018). Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. JAMA 319, 2401–2409.
Recent work on the characterization of the impact of rare pathogenic variants on the neurodevelopmental and psychiatric outcomes of adults.
Finucane, B., Savatt, J.M., Shimelis, H., Girirajan, S., and Myers, S.M. (2021). Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax. Am. J. Med. Genet. A 185, 1922–1924.
Savatt, J.M., Shimelis, H., Moreno-De-Luca, A., Strande, N.T., Oetjens, M.T., Ledbetter, D.H., Martin, C.L., Myers, S.M., and Finucane, B.M. (2022). Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population. Genet. Med. 10.1016/j.gim.2022.05.006.
Shimelis, H., Oetjens, M. T., Walsh, L. K., Wain, K. E., Znidarsic, M., Myers, S. M., Finucane, B. M., Ledbetter, D. H., & Martin, C. L. (2023). Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population. The American Journal of Psychiatry, 180(1), 65–72.
https://www.ncbi.nlm.nih.gov/myncbi/1zmlJHjAK7m5Io/bibliography/public/