pmf104

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. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy
  2. Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer
  3. Targeting CDK6 and BCL2 exploits the "MYB addiction" of Phþacute lymphoblastic leukemia
  4. Exosomal αvβ6 integrin is required for monocyte M2 polarization in prostate cancer
  5. Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications
  6. Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
  7. Detection of activating estrogen receptor gene (ESR1) mutations in single circulating tumor cells
  8. Establishment of an orthotopic patient-derived xenograft mouse model using uveal melanoma hepatic metastasis
  9. Transcriptomic profiling of 39 commonly-used neuroblastoma cell lines
  10. Nanostructured luminescently labeled nucleic acids
  11. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
  12. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
  13. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy
  14. Detection and characterization of circulating tumor associated cells in metastatic breast cancer
  15. Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine
  16. Development of an Automated and Sensitive Microfluidic Device for Capturing and Characterizing Circulating Tumor Cells (CTCs) from Clinical Blood Samples
  17. Structure-based screen identifies a potent small molecule inhibitor of Stat5a/b with therapeutic potential for prostate cancer and chronic myeloid leukemia
  18. Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- And tissue-specific microRNAs
  19. The future of laboratory medicine - A 2014 perspective
  20. Performance of exome sequencing for pharmacogenomics