A photo of Teresa Smolarek.

Teresa Smolarek, PhD

  • Director, Genetics and Genomics Diagnostic Laboratory, Division of Human Genetics
  • Associate Professor, UC Department of Pediatrics



Research areas I study include genetics, genomics, cancer genetics, molecular genetics and cytogenetics. I have a strong interest in identifying the genetic causes of inherited disorders and cancer using different technologies, including SNP microarray analysis, fluorescence in situ hybridization (FISH) analysis and standard chromosome analysis.

I was inspired to pursue this field of research by the impressive researchers Drs. Anne Marie Block and Avery Sandberg. Also, the courses I took in high school and college led me to these specific research interests.

Throughout my career, I have received notable recognitions, including receiving a first-place poster competition award at the Cancer Genomics Consortium meeting in Denver, Colorado in 2017. My poster centered on analyzing genomic copy number changes in leukemic cells from patients with iAMP21.

I have more than 20 years’ experience in human genetics and first joined Cincinnati Children’s Hospital Medical Center in 1999. My research has been published in a number of respected journals, such as Genetics in Medicine, Cancer Genetics, The Journal of Pediatrics, Pediatric Blood Cancer, American Journal of Human Genetics, American Journal of Medical Genetics and Journal of Clinical Immunology.


Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Hu, X; Baker, EK; Johnson, J; Balow, S; Pena, LD M; Conlin, LK; Guan, Q; Smolarek, TA. Molecular Cytogenetics. 2022; 15.

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Du, X; Glass, JE; Balow, S; Dyer, LM; Rathbun, PA; Guan, Q; Liu, J; Wu, Y; Dawson, DB; Walters-Sen, L; et al. Journal of Autism and Developmental Disorders. 2022; 52:4828-4842.

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. Li, M; Glass, J; Du, X; Dubbs, H; Harr, MH; Falk, M; Smolarek, T; Hopkin, RJ; Zackai, E; Sheppard, SE. American Journal of Medical Genetics, Part A. 2021; 185:2374-2383.

Characterizing temporal genomic heterogeneity in pediatric low-grade gliomas. Lazow, MA; Hoffman, L; Schafer, A; Osorio, DS; Boué, DR; Rush, S; Wright, E; Lane, A; DeWire-Schottmiller, MD; Smolarek, T; et al. Acta neuropathologica communications. 2020; 8.

Aneuploid embryo transfer: clinical policies and provider opinions at United States fertility clinics. McGowan, R; Pilipenko, V; Smolarek, TA; West, E; Tolusso, LK. Fertility and Sterility. 2020; 114:110-117.

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X. Sund, KL; Khattar, D; Boomer, T; Caldwell, S; Dyer, L; Hopkin, RJ; Smolarek, TA. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2020; 184:294-301.

Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia. Akkari, YM N; Bruyere, H; Hagelstrom, RT; Kanagal-Shamanna, R; Liu, J; Luo, M; Mikhail, FM; Pitel, BA; Raca, G; Shago, M; et al. Cancer genetics. 2020; 243:52-72.

Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome. Alexandrou, E; Cabrera-Salcedo, C; Labilloy, G; Tyzinski, L; Smolarek, TA; Andrew, M; Huang, Y; Backeljauw, P; Dauber, A. (2020) 216:227-231.

The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1). Kellner, ES; Rathbun, PA; Marshall, GS; Tolusso, LK; Smolarek, TA; Sun, M; Chandra, S; Bleesing, J; Marsh, RA. Journal of Clinical Immunology. 2019; 39:857-859.

6. Expansion of the validation of Illumina MethylationEPIC BeadChip for medulloblastoma (MB) subgrouping and copy number analysis across institutions and results from the initial 47 clinical cases. Smolarek, T; Hott, B; Salloum, R; Fuller, C; Ramaswamy, V; Taylor, M; Fouladi, M; Dyer, L; Drissi, R. Cancer genetics. 2019; 233.