Research

Overview

The rise of next-generation DNA sequencing has yielded a marked expansion in clinical genetic and genomic testing, allowing for the emergence of "personal genomics" as a reality. However, the use of whole-genome analysis must accommodate the inherent complexities of clonal abnormalities, as seen in cancer, or mosaic genetic abnormalities. The most robust way to interpret complex clonal abnormalities for clinical diagnosis and prognosis is via cytogenetics, the genetics of the single cell.

Building upon my prior experience in clinical cytogenetics at Mayo Clinic, and molecular genetics at Washington University in St. Louis, I completed my training at UAB in clinical cytogenetics, molecular genetics and genomics to properly interpret mechanisms of genetic disease. I am board-certified by ABMGG in clinical cytogenetics and genomics, as well as clinical molecular genetics and genomics.

• Gonzales, P., R, Andersen, E., F, Brown, T., R, Horner, V., L, Horwitz, J, Rehder, C., W, Rudy, N., L, Robin, N., H, Thorland, E., C. 2022. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/ uniparental disomy, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine, 24 (2), 255-261. (21)05354-5/fulltext
• Upadia, J., Gonzales, P.., R., Atkinson, T.., P. , Schroeder, H.., W., Robin, N.., H., Rudy, N.., L., Mikhail, F.., M.. 2018. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. American Journal of Medical Genetics Part A
• Gonzales, P.., R., Mikhail, F.., M.. 2017. Diagnostic and Prognostic Utility of Fluorescence In Situ Hybridation (FISH) Analysis in Acute Myeloid Leukemia. Current Hematologic Malignancy Reports
• Gonzales, P., R, Carroll, A., J, Korf, B., R. 2016. Overview of Clinical Cytogenetics
• Gonzales, P.., R., Pesesky, M.., W., Bouley, R., Ballard, A., Biddy, B.., A., Suckow, M.., A. , Wolter, W.., R., Schroeder, V.., A., Burham, C.., D., Mobashery, S., Chang, M., Dantas, G.. 2015. Synergistic, collaterally sensitive β-lactam combinations suppress resistance in MRSA. Nature Chemical Biology