Paolo M. Fortina, MD, PhD

Contact Dr. Fortina

233 South 10th Street
BLSB 1009
Philadelphia, PA 19107

(215) 955-0683
(215) 503-9142 fax

Most Recent Peer-reviewed Publications

  1. Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
  2. Detection of activating estrogen receptor gene (ESR1) mutations in single circulating tumor cells
  3. Establishment of an orthotopic patient-derived xenograft mouse model using uveal melanoma hepatic metastasis
  4. Transcriptomic profiling of 39 commonly-used neuroblastoma cell lines
  5. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
  6. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
  7. Detection and characterization of circulating tumor associated cells in metastatic breast cancer
  8. Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine
  9. Development of an Automated and Sensitive Microfluidic Device for Capturing and Characterizing Circulating Tumor Cells (CTCs) from Clinical Blood Samples
  10. Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- And tissue-specific microRNAs
  11. The future of laboratory medicine - A 2014 perspective
  12. Clinical exome performance for reporting secondary genetic findings
  13. RB loss contributes to aggressive tumor phenotypes in MYC-driven triple negative breast cancer
  14. Performance of exome sequencing for pharmacogenomics
  15. Kinase-independent role of cyclin D1 in chromosomal instability and mammary tumorigenesis
  16. The retinoblastoma tumor suppressor modulates DNA repair and radioresponsiveness
  17. The retinoblastoma tumor suppressor pathway modulates the invasiveness of ErbB2-positive breast cancer
  18. Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics
  19. The human platelet: Strong transcriptome correlations among individuals associate weakly with the platelet proteome
  20. Genomic test validation for incidental findings