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.

Chen, J., Troiani, J., Pearce, H.E., Blake, N.E., Wood, K.H., Dulik, M.C., Wanf, J.: Correlation of mitochondrial DNA content in muscle with genetic diagnosis. American College of Medical Genetics Annual Clinical Genetics Meeting, Los Angeles Mar 2025.

Fanning, E.A., Reichert, S.L., Weckselblatt, B., Dulik, M.C., Luo, M.A., Bayram, Y., Dubbs, H.A., Zackai, E.H., Spinner, N.B., Conlin, L.K.: Recurrent 2q11.2 deletions and duplications: A look at segregation, clinical presentation, and additional genetic testing. American College of Medical Genetics Annual Clinical Genetics Meeting, Los Angeles Mar 2025.

Reichert, S.L., Bedoukian, E.L., Wild, T., Lent, J., Fanning, E.A., Heck, A., Rajagopalan, R., Conlin, L.K., Spinner, N.B., Dulik, M.C.: Reevaluating the standard approach to genomic testing in infants: Targeted genomic testing vs. exome/genome sequencing as a first-tier test. American College of Medical Genetics Annual Clinical Genetics Meeting, Los Angeles Mar 2025.

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.

Campbell, I., Henin, M., Potter, J., Medne, L., Obstfeld, A., Dulik, M.: Implementation of precision medicine for rare genetic disease in the EHR of a large academic pediatric health system. American Medical Informatics Association 2023 Annual Symposium, New Orleans Nov 2023.

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.