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