Clinical Focus

  • Medical Genetics
  • Clinical Genetics

Academic Appointments

  • Clinical Associate Professor, Pathology

Professional Education

  • Board Certification: Clinical Genetics and Genomics, American Board of Medical Genetics and Genomics (2018)
  • Board Certification: Clinical Molecular Genetics, American Board of Medical Genetics and Genomics (2015)
  • Fellowship: National Institute Of Health Medical Genetics and Genomics Fellowship (2015) MD
  • Board Certification: Clinical Genetics, American Board of Medical Genetics and Genomics (2009)
  • Fellowship: Stanford University Clinical Biochemical Genetics Fellowship (2008) CA
  • Residency: Stanford University Medical Genetics (2007) CA
  • Board Certification: Pediatrics, American Board of Pediatrics (2005)
  • Residency: University of South Florida Pediatric Residency (2005) FL
  • Medical Education: University of South Florida College of Medicine Registrar (2002) FL
  • Board Certification, Clinical Biochemical Genetics, American Board of Medical Genetics (2009)


All Publications

  • The role of vanin-1 and oxidative stress-related pathways in distinguishing acute and chronic pediatric ITP BLOOD Zhang, B., Lo, C., Shen, L., Sood, R., Jones, C., Cusmano-Ozog, K., Park-Snyder, S., Wong, W., Jeng, M., Cowan, T., Engleman, E. G., Zehnder, J. L. 2011; 117 (17): 4569-4579


    Pediatric immune thrombocytopenia (ITP) is usually self-limited. However, approximately 20% of children develop chronic ITP, which can be associated with significant morbidity because of long-term immunosuppression and splenectomy in refractory cases. To explore the molecular mechanism of chronic ITP compared with acute ITP, we studied 63 pediatric patients with ITP. Gene expression analysis of whole blood revealed distinct signatures for acute and chronic ITP. Oxidative stress-related pathways were among the most significant chronic ITP-associated pathways. Overexpression of VNN1, an oxidative stress sensor in epithelial cells, was most strongly associated with progression to chronic ITP. Studies of normal persons demonstrated VNN1 expression in a variety of blood cells. Exposure of blood mononuclear cells to oxidative stress inducers elicited dramatic up-regulation of VNN1 and down-regulation of PPAR?, indicating a role for VNN1 as a peripheral blood oxidative stress sensor. Assessment of redox state by tandem mass spectrometry demonstrated statistically significant lower glutathione ratios in patients with ITP versus healthy controls; lower glutathione ratios were also seen in untreated patients with ITP compared with recently treated patients. Our work demonstrates distinct patterns of gene expression in acute and chronic ITP and implicates oxidative stress pathways in the pathogenesis of chronic pediatric ITP.

    View details for DOI 10.1182/blood-2010-09-304931

    View details for PubMedID 21325602

  • 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS Cusmano-Ozog, K., Manning, M. A., Hoyme, H. E. 2007; 145C (4): 393-398


    The 22q13.3 deletion syndrome is a recognizable malformation syndrome associated with developmental delay, hypotonia, delayed or absent speech, autistic-like behavior, normal to accelerated growth and dysmorphic facies. The prevalence of this disorder is unknown, but it is likely under-diagnosed. Age at diagnosis has varied widely, from cases diagnosed prenatally to 46 years. Males and females are equally affected. The distal 22q deletion can be detected occasionally by routine or high resolution chromosome analysis; however, the majority of cases are detected by FISH analysis, associated with deletion of the ARSA (control) probe when performing a FISH analysis for the velocardiofacial syndrome (del 22q11.2). The 22q13.3 deletion syndrome can accompany a simple chromosome deletion, an unbalanced translocation, or a ring chromosome. Primary care physicians, in addition to numerous specialists, play an important role in caring for patients with this disorder. Although the dysmorphic features observed in this condition are nonspecific, it is an important consideration in the differential diagnosis of children with developmental delay, hypotonia, marked speech and language disability, autistic-like features, multiple minor anomalies, and normal growth and head circumference.

    View details for DOI 10.1002/ajmg.c.30155

    View details for Web of Science ID 000251230300009

    View details for PubMedID 17926345

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