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Genetic Counseling Faculty Scholarship


Studwell, C. M., Kelley, E. G., Undiagnosed Diseases Network, Sinsheimer, J. S., Palmer, C., & LeBlanc, K. (2021). Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. Journal of Genetic Counseling, 30(2), 439–447. https://doi.org/10.1002/jgc4.1329

LeBlanc, K., Kelley, E. G., Nagy, A., Bater, J., Berro, T., McGuinness, M. A., Studwell, C., Undiagnosed Diseases Network, & Might, M. (2021). Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network. Orphanet Journal of Rare Diseases, 16(1), 210. https://doi.org/10.1186/s13023-021-01825-1

Morales, A., Ing, A., Antolik, C., Austin-Tse, C., Baudhuin, L.M., Bronicki, L., Cirino, A., Hawley, M.H., Fietz, M., Garcia, J., Ho, C., Ingles, J., Jarinova, O., Johnston, T., Kelly, M. A., Kurtz, C. L., Lebo, M., Macaya, D., Mahanta, L., Maleszewski, J., Manrai, A. K., Murray, M., Richard, G., Semsarian, C., Thomson, K. L., Winder, T., Ware, J. S., Hershberger, R. E., Funke, B. H., Vatta, M., ClinGen Cardiovascular Clinical Domain Working Group, & Cardiomyopathy Variant Curation Expert Panel. (2021). Harmonizing the collection of clinical data on genetic testing requisition forms to enhance variant interpretation in hypertrophic cardiomyopathy (HCM): A study from the ClinGen Cardiomyopathy Variant Curation Expert Panel. Journal of Molecular Diagnostics. Advance online publication. https://doi.org/10.1016/j.jmoldx.2021.01.014 

Snyder, E. A. (GC ’22), San Roman, A. K., Piña-Aguilar, R. E., Steeves, M. A., McNamara, E. A., Souter, I., Hayes, F. J., Levitsky, L. L., & Lin, A. E. (2021). Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management. European Journal of Medical Genetics, 64(3), Article 104140. 

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


LeBlanc, K., Brooks, P.J., Ho, M., & Pike-Langenfeld, S. (2021, April 28). From diagnosis to driving research. Conference presentation. NORD RareLaunch Research Ready Virtual Workshop.

Zeng, I. A., PAS ’21, Martinchek, M. K., and Dwyer, P. R. (2021, May). Bilateral pulmonary embolism in a 17-year-old girl with a history of COVID-19 and oral contraceptive use. Poster presentation. AAPA 2021 Conference.

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.