Jaclyn Biegel, PhD

Jaclyn Biegel, PhD, is a member of the Division of Genomic Diagnostics and the Division of Human Genetics at CHOP.

Areas of Expertise: Effect of antiretroviral drugs on oligodendrocyte maturation, Molecular genetics
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

  • Education and Training


    Institute of Pathology, Shadyside Hospital, Pittsburgh, PA


    Duke University Medical Center, Durham, NC

    Undergraduate Degree

    BS, Biology, Union College

    Graduate Degree

    MS, Hygiene (Human Genetics), University of Pittsburgh

    PhD, Human Genetics, University of Pittsburgh

  • Titles and Academic Titles

    Director, Cancer Cytogenetics Laboratory

    Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

  • Departments and Services
  • Research Interests

    Rhabdoid tumors
    Pediatric brain tumor

  • Publications



    Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res. 2009 Mar 10. [Epub ahead of print]


    Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA. Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene. Brain Pathology. doi:10.111/j.1750-3639.2008.00225.x..


    Jackson  EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor, Human Genet, DOI 10.1007/s00439-007-0386-3, 2007


    Biegel JA, Zhou J-Y, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren, B. Germline and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74-79, 1999.