Genetic Counseling Faculty Scholarship
Publications
Cirino, A. L., Cuddy, S., Lakdawala, & N. K. (2020). Deletion of entire LMNA gene as a cause of cardiomyopathy. HeartRhythm Case Rep. 6(7):395-397. https://doi.org/10.1016/j.hrcr.2020.03.008
Dutta, D., Briere, L. C., Kanca, O., Marcogliese, P. C., Walker, M. A., High, F. A., Vanderver, A., Krier, J., Carmichael, N., Callahan, C., Taft, R. J., Simons, C., Helman, G., Network, U. D., Wangler, M. F., Yamamoto, S., Sweetser, D. A., & Bellen, H. J. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 29(9):1568-1579. https://doi.org/10.1093/hmg/ddaa081
Guillen Sacoto, M. J., Tchasovnikarova, I. A., Torti, E., Forster, C., Andrew, E. H., Anselm, I., Baranano, K. W., Briere, L. C., Cohen, J.S., Craigen, W. J., Cytrynbaum, C., Ekhilevitch, N., Elrick, M. J., Fatemi, A., Fraser, J. L., Gallagher, R. C., Guerin, A., Haynes, D., High, F. A., Inglese, C. N., Kiss, C., Koenig, M. K., Krier, J., Lindstrom, K., Marble, M., Meddaugh, H., Moran, E. S., Morel, C. F., Mu, W., Muller, E. A. 2nd, Nance, J., Natowicz, M. R., Numis, A. L., Ostrem, B., Pappas, J., Stafstrom, C. E., Streff, H., Sweetser, D. A., Szybowska, M. Undiagnosed Diseases Network, Walker, M. A., Wang, W., Weiss, K., Weksberg, R., Wheeler, P. G., Yoon, G., Kingston, R. E., & Juusola, J. (2020). De Novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism [published online ahead of print]. Am J Hum Genet. S0002-9297(20)30201-9. https://doi.org/10.1016/j.ajhg.2020.06.013
Alimena, S., Scarpetti, L., Blouch, E. L., Rodgers, L., Shannon, K., Del Carmen, M., Goodman, A., Growdon, W. B., Eisenhauer, E., & Clark Sisodia, R. (2020). Factors associated with referral and completion of genetic counseling in women with epithelial ovarian cancer. International Journal of Gynecological Cancer. Advance online publication. https://doi.org/10.1136/ijgc-2019-001168
Daly, M. B., Pilarski, R., Yurgelun, M. B., Berry, M. P., Buys, S. S., Dickson, P., Domchek, S. M., Elkhanany, A., Friedman, S., Garber, J. E., Goggins, M., Hutton, M. L., Khan, S., Klein, C., Kohlmann, W., Kurian, A. W., Laronga, C., Litton, J, K., Mak, J., Menendez, C. S., Merajver, S. D., Norquist, B. S., Offit, K., Pal, T., Pederson, H. J., Reiser, G., Shannon, K. M., Visvanathan, K., Weitzel, J. N., Wick, M. J., Wisinski, K. B., Dwyer, M. A., Darlow, S. D. (2020). NCCN guidelines insights: Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 1.2020. Journal of the National Comprehensive Cancer Network, 18(4), 380-391. https://doi.org/10.6004/jnccn.2020.0017
Sheehan, E., Bennett, R. L., Harris, M., & Chan-Smutko, G. (2020). Assessing transgender and gender non-conforming pedigree nomenclature in current genetic counselors' practice: The case for geometric inclusivity. Journal of Genetic Counseling. Advanced online publication. https://doi.org/10.1002/jgc4.1256
Berro, T., Amir, F., Chan-Smutko, G., Lawrence, J., & Channaoui, N. (2020). Creation and utility of 'Boston Minority Genetic Counselors.' Journal of Genetic Counseling, 29(2), 206-211. https://doi.org/10.1002/jgc4.1268
Bao, A. K., Bergner, A. L., Chan-Smutko, G., & Villiers, J. (in press). Reflections on diversity, equity, and inclusion in genetic counseling education. Journal of Genetic Counseling. https://doi.org/10.1002/jgc4.1242
Axelsson Raja, A., Shi, L., Day, S.M., Russell, M., Zahka, K., Lever, H., Colan, S.D., Margossian, R., Hall, E.K., Becker, J., Jefferies, J.L., Patel, A.R., Choudhury, L., Murphy, A.M., Canter, C., Bach, R., Taylor, M., Mestroni, L., Wheeler, M.T., Benson, L., Owens, A.T., Rossano, J., Lin, K.Y., Pahl, E., Pereira, A.C., Bundgaard, H., Lewis, G.D., Vargas, J.D., Cirino, A.L., McMurray, J.J.V., MacRae, C.A., Solomon, S.D., Orav, E.J., Braunwald, E., & Ho, C.Y. Baseline characteristics of the VANISH cohort. Circulation: Heart Failure, 12(12), Article e006231. https://doi.org/10.1161/CIRCHEARTFAILURE.119.006231
Eberly, L.A., Day, S.M., Ashley, E.A., Jacoby, D.L., Jefferies, J.L., Colan, S.D., Rossano, J.W., Semsarian, C., Pereira, A.C., Olivotto, I., Ingles, J., Seidman, C.E., Channaoui, N., Cirino, A.L., Han, L., Ho, C.Y., & Lakdawala, N.K. (2020). Association of race with disease expression and clinical outcomes among patients with hypertrophic cardiomyopathy. JAMA Cardiology, 5(1), 83-91. https://doi.org/10.1001/jamacardio.2019.4638
Means, C., Cirino, A., Swenson, K.B., & Austin, J. (in press). "I am a genetic counselor": A qualitative exploration of field leaders' perceptions of the title "genetic counselor". Journal of Genetic Counseling. https://doi.org/10.1002/jgc4.1184.
Harris, S., Cirino, A.L., Carr, C.W., Tafessu, H.M., Parmar, S., Greenberg, J.O., Szent-Gyorgyi, L.E., Ghazinouri (DPT ’07, MS ’99), R., Glowny, M.G., McNeil, K., Kaynor, E.F., Neumann, C., Seidman, C.E., MacRae, C.A., Ho, C.Y., & Lakdawala, N.K. (2019). The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication. Molecular Genetics & Genomic Medicine, 7, e940. https://doi.org/10.1002/mgg3.940.
Muller, A., Dalton, E., Enserro, D., Wang, C., Flynn, M. (2019). Recontact Practices of Cancer Genetic Counselors and an Exploration of Professional, Legal, and Ethical Duty. Journal of Genetic Counseling, 28(4), 836-846. https://doi.org/10.1002/jgc4.1126
Presentations
Allison Cirino presented in a session on the role of genetic counselors in research at the National Society of Genetic Counselors Annual Conference, Salt Lake City, UT. November 2019.
Allison Cirino was a panelist in the Clinical Genomics Bootcamp at the American Heart Association Scientific Sessions Philadelphia, PA. November 2019.
Dobson, L., Fieg, E., Channaoui, N., Berro, T., Carmichael, N. "Streamlining Exposure to Genetic Counseling as a Profession through Hospital-Based Genetic Counseling Career Day Event." Poster presented at the National Society of Genetic Counselors Annual Conference, Salt Lake City, UT. November 2019.