Selected Publications

Dortenzio V, Barbaric L, Rosenfeld E, Dechene ET, Gilbert MA, Dulik MC, Rippert AL, Izumi K : Clinical characteristics of patients with Kabuki syndrome at a single tertiary children's hospital. American Journal of Medical Genetics. Part A 197(6): e64003. Jun 2025.

Wang J, Peterson JT, Santos JDD, Chan AJS, Diaz-Miranda MA, Rahaman I, Flickinger J, Goldstein A, Bogush E, McCormick EM, Muraresku CC, Anderson VE, Dulik MC, Wallace DC, Xiao R, Falk MJ, Viaene AN, Zolkipli-Cunningham Z: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Frontiers in Pharmacology 16: 1507493, Apr 2025 Notes: DOI: 10.3389/fphar.2025.1507493.

Guess T, Wheeler FC, Yenemandra A, Schilit SLP, Anderson HS, Bone KM, Carstens B, Conlin L, Dulik MC, Dupont BR, Fanning E, Gardner JA, Haag M, Hilton BA, Johnson J, Kogan J, Murry J, Polonis K, Quigley DI, Repnikova EA, Rowsey RA, Spinner N, Stoeker M, Thurston V, Wiley M, Zhang L.: A multi-center analysis of individuals with a 47,XXY/46,XX karyotype. Genetics in Medicine 26(10): 101212, Oct 2024.

Bedoukian, E., Reichert, S., Conlin, L., Dechene, E., Dulik, M., Heck, A., Hershey, J., Marchese, M., McManus, M., Mulchandani, S., Rajagopalan, R., Reynoso Santos, F.J., Wild, T., Wood, K., Krantz, I., Spinner, N.: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period. American College of Medical Genetics Annual Clinical Genetics Meeting, Toronto Mar 2024.

Reichert, S.L., Dechene, E., Lulis, L., Valverde, K., Conway, L., Dulik, M. : Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation. Journal of Genetic Counseling 33(1): 151-155, Feb 2024.

Yamamoto,. N., Balciuniene, J., Hartman, T., Diaz-Miranda, M.A.4, Bedoukian, E., Devkota, B., Lawrence, A., Golenberg, N., Patel, M., Tare, A., Chen, R., Schindler, E., Choi, J., Kaur, M., Charles, S., Chen, J., Fanning, E.A., Dechene, E., Cao, K. Murrell, J.R., Rajagopalan, R., Bayram, Y., Dulik, M.C., Germiller, J., Conlin, L.C., Krantz, I.D., Luo, M. : Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield. The Journal of Pediatrics 262: 113620, Nov 2023.

McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Alves CAPF, Ardissone A, Bai R, de Barcelos IP, Bertini E, Bluske K, Christodoulou J, Clause AR, Copeland WC, Diaz GA, Diodato D, Dulik MC, Enns G, Feigenbaum A, Fratter C, Ghezzi D, Goldstein A, Gropman A, Haas R, Karaa A, Koenig MK, Monteleone B, Parikh S, Duenas BP, Rajkumar R, Saada A, Saneto RP, Sergeant K, Shoffner J, Smith C, Stanley C, Thiffault I, Thorburn D, Walker M, Wallace D, Wong LJ, Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S.: Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of Neurology 94(4): 696-712, Oct 2023.

Kuroda, Y., Iwata-Otsubo, A., Dias, K., Temple, S.E.L., Nagao, K., De Hayr, L., Zhu, Y., Isobe, S., Nishibuchi, G., Fiordaliso, S.K., Fujita, Y., Rippert, A.L., Baker, S.W., Leung, M.L., Koboldt, D.C., Harman, A., Keena, B.A., Kazama, I., Subramanian, G.M., Manickam, K., Schmalz, B., Latsko, M., Zackai, E.H., Edwards, M., Evans, C., Dulik, M.C., Buckley, M.F., Yamashita, T., O'Brien, W.T., Harvey, R.J., Obuse, C., Roscioli, T., Izumi, K.: Dominant-negative variants in CBX1 cause a neurodevelopmental disorder. Genetics in Medicine 25(7): 100861, Jul 2023.

Wang, J., Chan, A., Peterson, J., Wood, K.H., Diaz-Miranda, M.A., Tara, A., Goldstein, A., Zolkipli-Cunningham, Z., McCormick, E.M., Muraresku, C., Dulik, M.C., Wallace, D., Falk, M.J.: Multiple mitochondrial DNA deletions in patients with myopathy. American College of Medical Genetics Annual Clinical Genetics Meeting, Salt Lake City, UT Mar 2023.

Aref-Eshghi, E., Cao, K., Fu, W., Wood, K.H., Spinner, N.S., Dulik, M.C., Conlin, L.C., Wang, J., Luo, M.: Too Few or Too Many? Variant Reporting Burden and Diagnostic Comparisons of an Extensive Gene Panel with Exome-Sequencing in Immunodeficiency. American College of Medical Genetics Annual Clinical Genetics Meeting, Nashville, TN Apr 2022.