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