Selected Publications

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.

Wang, J., Diaz-Miranda, M.A., Balciuniene, J., Jayaraman, P., Jung, H., Troiani, J., Moseley, A., Fan, Z., McCormick, E., Wallace, D., Falk, M.J., Dulik, M.C.: Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders. American College of Medical Genetics Annual Clinical Genetics Meeting, Virtual Apr 2021.

McCormick, E.M.*, Lott, M.T.*, Dulik, M.C.*, Shen, L., Attimonelli, M., Vitale, O., Karaa, A., Bai, R., Pineda-Alvarez, D.E., Singh, L.N., Stanley, C.M., Wong, S., Bhardwaj, A., Merkurjev, D., Mao, R., Sondheimer, N., Zhang, S., Procaccio, V., Wallace, D.C., Gai, X., Falk, M.J.: Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human Mutation 41(12): 2028-2057, Dec 2020 Notes: * equally contributed as first authors.

Lalonde, E., Rentas, S., Lin, F., Dulik, M.C., Skraban, C.M., Spinner, N.B.: Genomic diagnosis for pediatric disorders: revolution and evolution. Frontiers in Pediatrics 8(8): 373, Jul 2020.

Fanning, E.A., Conlin, L.K., Niazi, R., Spinner, N.B., Abou Tayoun, A.N., Dulik, M.C., Murrell, J.R.: Diagnostic yield and overall experience with a congenital diarrhea panel. American College of Medical Genetics Annual Clinical Genetics Meeting, San Antonio 2020.

Rafferty, K., Dulik, M., Luo, M., Murrell, J.R., Zackai, E.H., Spinner, N.B., Conlin, L.K. : Dual genetic diagnoses detected through chromosomal microarrays. American College of Medical Genetics Annual Clinical Genetics Meeting, San Antonio 2020.

Gustafson M.A., McCormick E.M., Perera L., Longley M.J., Bai R., Kong J., Dulik M., Shen L., Goldstein A.C., McCormack S.E., Laskin B.L., Leroy B.P., Ortiz-Gonzalez X.R., Ellington M.G., Copeland W.C., Falk M.J.: Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. PLoS One 14(9): e0221829, Sep 2019.

Hart, M.R., Biesecker, B.B., Blout, C.L., Christensen, K.D., Amendola, L.M., Bergstrom, K.L., Biswas,S., Bowling, K.M., Brothers, K.B., Conlin, L.K., Cooper, G.M., Dulik, M.C., East, K.M., Everett, J.N., Finnila, C.R., Ghazani, A.A., Gilmore, M.J., Goddard, K.A.B., Jarvik, G.P., Johnston, J.J., Kauffman, T.L., Kelley, W.V., Krier, J.B., Lewis, K.L., McGuire, A.L., McMullen, C., Ou, J., Plon, S.E., Rehm, H.L., Richards, C.S., Romasko, E.J., Sagardia, A.M., Spinner, N.B., Thompson, M.L., Turbitt, E., Vassy, J.L., Wilfond, B.S., Veenstra, D.L., Berg, J.S., Green, R.C., Biesecker, L.G., Hindorff, L.A.: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genetics in Medicine 21(5): 1100-1110, May 2019.

Baker, S.W., Murrell, J.R., Nesbitt, A.I., Pechter, K.B., Balciuniene, J., Zhao, X., Yu, Z., Denenberg, E.H., DeChene, E.T., Wilkens, A.B., Bhoj, E.J., Guan, Q., Dulik, M.C., Conlin, L.K., Abou Tayoun, A.N., Luo, M., Wu, C., Cao, K., Sarmady, M., Bedoukian, E.C., Tarpinian, J., Medne, L., Skraban, C.M., Deardorff, M.A., Krantz, I.D., Krock, B.L., Santani, A.B.: Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. Journal of Molecular Diagnostics 21(1): 38-48, Jan 2019.

Sheppard, S., Biswas, S., Li, M., Jayaraman, V., Slack, I., Romasko, E.J., Sasson, A., Brunton, J., Rajagopalan, R., Sarmady, M., Abrudan, J.L., Jairam, S., DeChene, E.T., Ying, X., Choi, J., Wilkens, A., Raible, S.E., Scarano, M.I., Santani, A., Pennington, J.W., Luo, M., Conlin, L.C., Devkota, B., Dulik, M.C., Spinner, N.B., Krantz, I.D.: Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genetics in Medicine 20(12): 1663-1676, Dec 2018.