Selected Publications

Gileta A, Muir AM, DeChene E, Weckselblatt B, Fanning EA, Spinner NB, Dulik MC, Luo MA, Conlin LK, Fan JS: Copy number variants involving ACMG secondary finding genes identified by routine genome-wide testing in a clinical pediatric population. American College of Medical Genetics Annual Clinical Genetics Meeting, Baltimore Mar 2026.

Luke T, Thiel B, Walter EA, Weckselblatt B, Auman M, Dipatri D, DiFlavis KM, Aruta M, Dulik MC, Conlin LK, Spinner NB, Bayram Y: Comparison of chromosomal SNP microarray and cytogenetic analysis for products of conception. American College of Medical Genetics Annual Clinical Genetics Meeting, Baltimore Mar 2026.

Reichert SL, Heck AM, Sobel Naveh NS, Spinner NB, Dulik MC, Wild KTS: Clinical correlation of reportable findings on rapid genomic sequencing in infants. American College of Medical Genetics Annual Clinical Genetics Meeting, Baltimore Mar 2026.

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.

Wild KT, Reichert SL, Dulik MC, Heck A, Bedoukian EC, Wood KH, Callahan KP, Hershey JA, Munson DA, Pechter KB, Regan-Fendt K, Gacita AM, Reynoso Santos FJ, McManus ML, Burrill N, Diaz-Miranda MA, Gilbert MA, Krantz ID, Rajagopalan R, Conlin LK, Spinner NB: Rapid Targeted Analysis of the Genome: Rapid genomic sequencing in critically ill infants. Genetics in Medicine Open 2025 Notes: https://doi.org/10.1016/j.gimo.2025.103476. (In Press).

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.