Selected Publications

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 May 2023 Notes: doi: 10.1002/ana.26716. Online ahead of print.

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 Apr 2023 Notes: DOI: 10.1016/j.gim.2023.100861. Online ahead of print.

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.

Chan, A., Wood, K.H., Balciuniene, J., Troiani, J., Pearce, H., Dulik, M.C., Wang, J.: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle. American College of Medical Genetics Annual Clinical Genetics Meeting, Nashville, TN Apr 2022.

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.

Reichert, S.L., Lulis, L., Medne, L., Gallo, D., Priestley, J., Bedoukian, E., Gray, C., Leonard, J., Hartman, T., Xu, Z.L., Campbell, C.D., Surrey, L.F., Li, M., Izumi, K., Dulik, M., Conlin, L., Spinner, N., Krantz, I., Murrell, J.: Development of an inpatient genetic test utilization process: lessons learned through a pilot study at a large tertiary care children’s hospital. Pennsylvania Association of Genetic Counselors Annual Conference Mar 2022.

Gill, E.L., Patel, K., Dickerson, J.A., Dulik, M.C., Grant, R.P., Heaney, D.L., Rudge, J.W.: Alternative sample matrices supporting remote sample collection during the pandemic and beyond. Clinical Chemistry 68(2): 269-275, Feb 2022.

Wang, J., Balciuniene, J., Diaz-Miranda, M.A., McCormick, E.M., Aref-Eshghi, E., Muir, A.M., Cao, K., Troiani, J., Moseley, A., Fan, Z., Zolkipli-Cunningham, Z., Goldstein, A., Ganetzky, R.D., Muraresku, C.C., Peterson, J.T., Spinner, N.B., Wallace, D.C., Dulik, M.C., Falk, M.J.: Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Molecular Genetics and Metabolism 135(1): 93-101, Jan 2022.

Murrell J.R., Nesbitt A.M.I., Baker S.W., Pechter K.B., Balciuniene J., Zhao X., Denenberg E.H., DeChene E.T., Wu C., Jayaraman P., Cao K., Gonzalez M., Devoto M., Testori A., Monos J.D., Dulik M.C., Conlin L.K., Luo M., McDonald Gibson K., Guan Q., Sarmady M., Bhoj E., Helbig I., Zackai E.H., Bedoukian E.C., Wilkens A., Tarpinian J., Izumi K., Skraban C.M., Deardorff M.A., Medne L., Krantz I.D., Krock B.L., Santani A.B.: Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? Journal of Molecular Diagnostics Jan 2022.

Gill, E.L., Patel, K., Dickerson J.A., Dulik, M.C., Grant, R.P., Heaney, D.L., Rudge J.W.: Alternative sample matrices supporting remote sample collection during the pandemic and beyond. Clinical Chemistry Page: hvab257, Dec 2021 Notes: doi: 10.1093/clinchem/hvab257. Online ahead of print.