Director, Cancer Cytogenetics Laboratory
Professor of Pediatrics, University of Pennsylvania School of Medicine
- Department: Pediatrics
- Division: Human Genetics and Molecular Biology
- Primary Address:
The Children's Hospital of Philadelphia
3615 Civic Center Boulevard, RM 1002 ARC Bldg.
Philadelphia, PA 19104
genetics of pediatric brain tumors
- Professor of Pediatrics at the Children's Hospital of Philadelphia (2004 – present)
- Associate Professor of Pediatrics at the Children's Hospital of Philadelphia (2000 – 2004)
- Research Associate Professor of Pediatrics, University of Pennsylvania School of Medicine (1996 – 2000)
- Research Assistant Professor of Pediatrics, University of Pennsylvania School of Medicine (1990 – 1996)
- Ph.D., Human Genetics, University of Pittsburgh (1981)
- M.S., Human Genetics, University of Pittsburgh (1979)
- B.S., Biology, Union College (1977)
Specialties and Services
PhD, Human Genetics, University of Pittsburgh
BS, Biology, Union College
MS, Hygiene (Human Genetics), University of Pittsburgh
Institute of Pathology, Shadyside Hospital, Pittsburgh, Pa.
Duke University Medical Center, Durham, NC
Rhaboid tumors, pediatric brain tumor, INI1/SMARCB1
- Jackson, E.M., Sievert, A.J., Gai, X., Hakonarson, H., Judkins, A.R., Tooke, L., Perin, J.C., Xie, H., Shaikh, T.H., Biegel, J.A.. 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.. Vol 15(15) . 2009 6:1923-1930.
- Biegel JA., Zhou JY., Rorke LB., Stenstrom C., Wainwright LM., Fogelgren B.. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Research. Vol 59(1) . 1999 Jan 1:74-79.
- Sievert, A.J., Jackson, E.M., Gai, X., Hakonarson, H., Judkins, A.R., Resnick, A.C., Sutton, L.N., Storm, P.B., Shaikh, T.H. and Biegel, J.A.. 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. Vol 19. 2009:449-458.
- Judkins AR., Mauger J., Rorke LB., Biegel JA.. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. American Journal of Surgical Pathology. Vol 28(5) . 2004 May:644-650.
- Biegel JA.. Cytogenetics and molecular genetics of childhood brain tumors.. Neuro-Oncology. Vol 1(2) . 1999 Apr:139-152.
- Swensen, J.J., Keyser, J., Coffin, C.M., Biegel, J.A., Viskochil, D.H., and Williams, M.S.. Familial occurrence of schwannomas and malignant rhabdoid tumor associated with a duplication in SMARCB1.. J. Med. Genet.. Vol 44. 2009:68-72.
- Jackson, E.M. , Shaikh, T.H., Gururangan, S., Jones, M.C., Malkin, D., Nikkel, S.M., Zuppan, C.W., Wainwright, L.M., Zhang, F., Biegel, J.A.. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.. Human Genet. Vol 122. 2007:117-127.
- Wu, Y., Lun, X., Zhou, H., Wang, L., Sun, B., Bell, J.C., Barrett, J.W., McFadden, G., Biegel, J.A., Senger, D.L., Forsyth, P.A.. Oncolytic efficacy of recombinant vesicular stomatitis virus and myxoma virus in experimental models of rhabdoid tumors.. Clinical Cancer Research. Vol 14. 2008:1218-1227.
- Pan, E., Pellarin, M., Holmes, E., Smirnov, I., Misra, A., Eberhart, C.G., Burger, P.C., Biegel, J.A., Feuerstein, B. G.. Isochromosome 17q is a negative prognostic factor in poor-risk childhood medulloblastoma patients. Clin Cancer Res. Vol 11(13) . 2005:4733-4740.