Selected Publications

Multiple mitochondrial DNA deletions in patients with myopathy: 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. American College of Medical Genetics Annual Clinical Genetics Meeting, Salt Lake City, UT 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.

Yamamoto, N., Balciuniene, J., Hartman, T., Devkota, B., Bedoukian, E., Golenberg, N., Diaz-Miranda, M., Charles, S. Dulik, M.C., Germiller, J., Conlin, L., Luo, M., Krantz, I.: Comprehensive genetic testing of sensorineural hearing loss in children: understanding phenotypic factors that influence the diagnostic yield. American Society of Human Genetics Annual Meeting, Virtual Oct 2021.

Muir, A.M., Troiani, J., Mosley, A., Fan, Z., Dulik, M.C., Wang, J.: A robust and sensitive method for the detection of mitochondrial DNA mutations from urine sediment and other low-quality DNA sources. American College of Medical Genetics Annual Clinical Genetics Meeting, Virtual Apr 2021.