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. Transcriptomic profiling of 39 commonly-used neuroblastoma cell lines
  2. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
  3. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity
  4. Detection and characterization of circulating tumor associated cells in metastatic breast cancer
  5. Detection and Characterization of Circulating Tumor Associated Cells in Metastatic Breast Cancer
  6. Next generation sequencing in cancer: opportunities and challenges for precision cancer medicine
  7. Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- And tissue-specific microRNAs
  8. The future of laboratory medicine - A 2014 perspective
  9. RB loss contributes to aggressive tumor phenotypes in MYC-driven triple negative breast cancer
  10. Performance of exome sequencing for pharmacogenomics
  11. Clinical exome performance for reporting secondary genetic findings
  12. Kinase-independent role of cyclin D1 in chromosomal instability and mammary tumorigenesis
  13. The retinoblastoma tumor suppressor modulates DNA repair and radioresponsiveness
  14. The retinoblastoma tumor suppressor pathway modulates the invasiveness of ErbB2-positive breast cancer
  15. Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics
  16. The human platelet: Strong transcriptome correlations among individuals associate weakly with the platelet proteome
  17. Genomic test validation for incidental findings
  18. Clinical genomics: When whole genome sequencing is like a whole-body CT scan
  19. Mechanisms of endothelial cell attachment, proliferation, and differentiation on 4 types of platinum-based endovascular coils
  20. Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability