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Jaclyn A. Biegel, PhD

TitleProfessor of Pathology (Clinical Scholar)
InstitutionUniversity of Southern California
DepartmentPediatrics
AddressCHLA 4650 W. Sunset Blvd.
Off Campus
Los Angeles CA 90026
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    Collapse Research 
    Collapse Research Activities and Funding
    Towards Precision Medicine in Childhood Acquired Aplastic Anemia
    NIH/NIDDK R24DK103001Sep 1, 2014 - Jul 31, 2017
    Role: Co-Principal Investigator
    Molecular Profiling and Candidate Gene Analysis in Pediatric Gliomas
    NIH/NCI R21CA133173Apr 1, 2008 - Sep 30, 2011
    Role: Principal Investigator
    Genetics of pediatric rhabdoid tumors
    NIH/NCI R01CA046274Jan 13, 1989 - May 31, 2014
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Cotter JA, Szymanski L, Karimov C, Boghossian L, Margol A, Dhall G, Tamrazi B, Varaprasathan GI, Parham DM, Judkins AR, Biegel J. Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner. Cold Spring Harb Mol Case Stud. 2018 Apr; 4(2). PMID: 29581140.
      View in: PubMed
    2. Moke DJ, Thomas SM, Hiemenz MC, Nael A, Wang K, Shillingford N, Biegel J, Mascarenhas L. Three synchronous malignancies in a patient with DICER1 syndrome. Eur J Cancer. 2018 Apr; 93:140-143. PMID: 29395683.
      View in: PubMed
    3. Babushok DV, Duke JL, Xie HM, Stanley N, Atienza J, Perdigones N, Nicholas P, Ferriola D, Li Y, Huang H, Ye W, Morrissette JJD, Kearns J, Porter DL, Podsakoff GM, Eisenlohr LC, Biegel J, Chou ST, Monos DS, Bessler M, Olson TS. Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications. Blood Adv. 2017 Oct 10; 1(22):1900-1910. PMID: 28971166.
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    4. Busse TM, Roth JJ, Wilmoth D, Wainwright L, Tooke L, Biegel J. Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients. Genes Chromosomes Cancer. 2017 10; 56(10):730-749. PMID: 28597942.
      View in: PubMed
    5. Kiehna EN, Arnush MR, Tamrazi B, Cotter JA, Hawes D, Robison NJ, Fong CY, Estrine DB, Han JH, Biegel J. Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor. J Neurosurg Pediatr. 2017 Jul; 20(1):51-55. PMID: 28387643.
      View in: PubMed
    6. Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel J, Mascarenhas L. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. Am J Med Genet A. 2017 May; 173(5):1390-1395. PMID: 28371217.
      View in: PubMed
    7. Metts JL, Park SI, Soares BP, Fong C, Biegel J, Goldsmith KC. Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation. Pediatr Blood Cancer. 2017 Sep; 64(9). PMID: 28111898.
      View in: PubMed
    8. Wang X, Lee RS, Alver BH, Haswell JR, Wang S, Mieczkowski J, Drier Y, Gillespie SM, Archer TC, Wu JN, Tzvetkov EP, Troisi EC, Pomeroy SL, Biegel J, Tolstorukov MY, Bernstein BE, Park PJ, Roberts CW. SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation. Nat Genet. 2017 Feb; 49(2):289-295. PMID: 27941797.
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    9. Perdigones N, Perin JC, Schiano I, Nicholas P, Biegel J, Mason PJ, Babushok DV, Bessler M. Clonal hematopoiesis in patients with dyskeratosis congenita. Am J Hematol. 2016 Dec; 91(12):1227-1233. PMID: 27622320.
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    10. Urtishak KA, Robinson BW, Rappaport EF, Sarezky MD, Biegel J, Nichols KE, Wilmoth DM, Wang LS, Stern JW, Felix CA. Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings. Pediatr Blood Cancer. 2016 07; 63(7):1175-80. PMID: 26999444.
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    11. Roth JJ, Fierst TM, Waanders AJ, Yimei L, Biegel J, Santi M. Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status. J Neuropathol Exp Neurol. 2016 Apr; 75(4):306-15. PMID: 26945035; PMCID: PMC5009478 [Available on 04/01/17].
    12. Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M, Johann P, Kool M, Lee RS, Gayden T, Roberts CW, Biegel J, Jabado N, Majewski J, Foulkes WD. Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor. Oncotarget. 2016 Jan 12; 7(2):1732-40. PMID: 26646792; PMCID: PMC4811493.
    13. Frühwald MC, Biegel J, Bourdeaut F, Roberts CW, Chi SN. Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies. Neuro Oncol. 2016 06; 18(6):764-78. PMID: 26755072; PMCID: PMC4864253 [Available on 06/01/17].
    14. Betensky M, Babushok D, Roth JJ, Mason PJ, Biegel J, Busse TM, Li Y, Lind C, Papazoglou A, Monos D, Podsakoff G, Bessler M, Olson TS. Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. Cancer Genet. 2016 Jan-Feb; 209(1-2):1-10. PMID: 26702937; PMCID: PMC4738084 [Available on 01/01/17].
    15. Gossai N, Biegel J, Messiaen L, Berry SA, Moertel CL. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. Am J Med Genet A. 2015 Dec; 167A(12):3186-91. PMID: 26364901.
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    16. Li MM, Monzon FA, Biegel J, Jobanputra V, Laffin JJ, Levy B, Leon A, Miron P, Rossi MR, Toruner G, Alvarez K, Doho G, Dougherty MJ, Hu X, Kash S, Streck D, Znoyko I, Hagenkord JM, Wolff DJ. A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays. Cancer Genet. 2015 Nov; 208(11):525-36. PMID: 26454669.
      View in: PubMed
    17. Folpe AL, Schoolmeester JK, McCluggage WG, Sullivan LM, Castagna K, Ahrens WA, Oliva E, Biegel J, Nielsen GP. SMARCB1-deficient Vulvar Neoplasms: A Clinicopathologic, Immunohistochemical, and Molecular Genetic Study of 14 Cases. Am J Surg Pathol. 2015 Jun; 39(6):836-49. PMID: 25651469.
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    18. Salazar EG, Wertheim GB, Biegel J, Hwang W, Tasian SK, Rheingold SR. Mixed Phenotype Acute Leukemia with Low Hypodiploidy in a Pediatric Patient. J Pediatr Oncol. 2015; 3(1):24-28. PMID: 26525596.
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    19. Weingart MF, Roth JJ, Hutt-Cabezas M, Busse TM, Kaur H, Price A, Maynard R, Rubens J, Taylor I, Mao XG, Xu J, Kuwahara Y, Allen SJ, Erdreich-Epstein A, Weissman BE, Orr BA, Eberhart CG, Biegel J, Raabe EH. Disrupting LIN28 in atypical teratoid rhabdoid tumors reveals the importance of the mitogen activated protein kinase pathway as a therapeutic target. Oncotarget. 2015 Feb 20; 6(5):3165-77. PMID: 25638158; PMCID: PMC4413645.
    20. Babushok DV, Perdigones N, Perin JC, Olson TS, Ye W, Roth JJ, Lind C, Cattier C, Li Y, Hartung H, Paessler ME, Frank DM, Xie HM, Cross S, Cockroft JD, Podsakoff GM, Monos D, Biegel J, Mason PJ, Bessler M. Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia. Cancer Genet. 2015 Apr; 208(4):115-28. PMID: 25800665; PMCID: PMC4433860.
    21. Geller JI, Roth JJ, Biegel J. Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog. 2015; 20(3-4):199-216. PMID: 26349416.
      View in: PubMed
    22. Baughn LB, Biegel J, South ST, Smolarek TA, Volkert S, Carroll AJ, Heerema NA, Rabin KR, Zweidler-McKay PA, Loh M, Hirsch B. Integration of cytogenomic data for furthering the characterization of pediatric B-cell acute lymphoblastic leukemia: a multi-institution, multi-platform microarray study. Cancer Genet. 2015 Jan-Feb; 208(1-2):1-18. PMID: 25678190.
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    23. Biegel J. Introduction from the editor. Cancer Genet. 2014 Sep; 207(9):345. PMID: 25434579.
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    24. Roth JJ, Santi M, Pollock AN, Harding BN, Rorke-Adams LB, Tooke LS, Biegel J. Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas. Brain Pathol. 2015 Mar; 25(2):182-92. PMID: 25040262; PMCID: PMC4282976.
    25. Biegel J, Busse TM, Weissman BE. SWI/SNF chromatin remodeling complexes and cancer. Am J Med Genet C Semin Med Genet. 2014 Sep; 166C(3):350-66. PMID: 25169151; PMCID: PMC4516040.
    26. Bosse KR, Shukla AR, Pawel B, Chikwava KR, Santi M, Tooke L, Castagna K, Biegel J, Bagatell R. Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion. Cancer Genet. 2014 Sep; 207(9):415-9. PMID: 25018128.
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    27. Oshrine BR, Olsen MN, Heneghan M, Wertheim G, Daber R, Wilmoth DM, Biegel J, Pawel B, Aplenc R, King RL. Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor. Cancer Genet. 2014 Apr; 207(4):153-9. PMID: 24831771.
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    28. Roth JJ, Santi M, Rorke-Adams LB, Harding BN, Busse TM, Tooke LS, Biegel J. Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors. Cancer Genet. 2014 Apr; 207(4):111-23. PMID: 24767714; PMCID: PMC4161453.
    29. Luskin M, Wertheim G, Morrissette J, Daber R, Biegel J, Wilmoth D, Kersun L, King R, Paessler M, Simon C, Aplenc R, Loren A. CLL/SLL diagnosed in an adolescent. Pediatr Blood Cancer. 2014 Jun; 61(6):1107-10. PMID: 24281971.
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    30. Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel J, Bessler M. Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. Br J Haematol. 2014 Jan; 164(1):73-82. PMID: 24116929; PMCID: PMC3986350.
    31. Babushok DV, Li Y, Roth JJ, Perdigones N, Cockroft JD, Biegel J, Mason PJ, Bessler M. Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients. Am J Hematol. 2013 Oct; 88(10):862-7. PMID: 23798465; PMCID: PMC3983712.
    32. Lawrence MS, Stojanov P, Polak P, Kryukov GV, Cibulskis K, Sivachenko A, Carter SL, Stewart C, Mermel CH, Roberts SA, Kiezun A, Hammerman PS, McKenna A, Drier Y, Zou L, Ramos AH, Pugh TJ, Stransky N, Helman E, Kim J, Sougnez C, Ambrogio L, Nickerson E, Shefler E, Cortés ML, Auclair D, Saksena G, Voet D, Noble M, DiCara D, Lin P, Lichtenstein L, Heiman DI, Fennell T, Imielinski M, Hernandez B, Hodis E, Baca S, Dulak AM, Lohr J, Landau DA, Wu CJ, Melendez-Zajgla J, Hidalgo-Miranda A, Koren A, McCarroll SA, Mora J, Crompton B, Onofrio R, Parkin M, Winckler W, Ardlie K, Gabriel SB, Roberts CWM, Biegel J, Stegmaier K, Bass AJ, Garraway LA, Meyerson M, Golub TR, Gordenin DA, Sunyaev S, Lander ES, Getz G. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature. 2013 Jul 11; 499(7457):214-218. PMID: 23770567; PMCID: PMC3919509.
    33. Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel J, Spinner NB, Deardorff MA. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A. 2013 May; 161A(5):993-1001. PMID: 23532898; PMCID: PMC4063309.
    34. Arnold MA, Stallings-Archer K, Marlin E, Grondin R, Olshefski R, Biegel J, Pierson CR. Cribriform neuroepithelial tumor arising in the lateral ventricle. Pediatr Dev Pathol. 2013 Jul-Aug; 16(4):301-7. PMID: 23495723.
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    35. Frank R, Sadri N, Bhatti T, Biegel J, Livolsi VA, Zhang PJ. Proximal-type Epithelioid Sarcoma of the Head and Neck (HN): A Study with Immunohistochemical and Molecular Analysis of SMARCB1. J Clin Exp Oncol. 2013; 2(2). PMID: 24308011.
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    36. Sullivan LM, Folpe AL, Pawel BR, Judkins AR, Biegel J. Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions. Mod Pathol. 2013 Mar; 26(3):385-92. PMID: 23060122; PMCID: PMC3556344.
    37. Kieran MW, Roberts CW, Chi SN, Ligon KL, Rich BE, Macconaill LE, Garraway LA, Biegel J. Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer. 2012 Dec 15; 59(7):1155-7. PMID: 22997201; PMCID: PMC3538080.
    38. Parikh S, Perdigones N, Paessler M, Greenbaum B, Tooke LS, Biegel J, Mason PJ, Bessler M. Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. Br J Haematol. 2012 Nov; 159(4):480-2. PMID: 22934832; PMCID: PMC3484241.
    39. Lee RS, Stewart C, Carter SL, Ambrogio L, Cibulskis K, Sougnez C, Lawrence MS, Auclair D, Mora J, Golub TR, Biegel J, Getz G, Roberts CW. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest. 2012 Aug; 122(8):2983-8. PMID: 22797305; PMCID: PMC3408754.
    40. Hertwig F, Meyer K, Braun S, Ek S, Spang R, Pfenninger CV, Artner I, Prost G, Chen X, Biegel J, Judkins AR, Englund E, Nuber UA. Definition of genetic events directing the development of distinct types of brain tumors from postnatal neural stem/progenitor cells. Cancer Res. 2012 Jul 01; 72(13):3381-92. PMID: 22719073; PMCID: PMC3494085.
    41. Sullivan LM, Yankovich T, Le P, Martinez D, Santi M, Biegel J, Pawel BR, Judkins AR. Claudin-6 is a nonspecific marker for malignant rhabdoid and other pediatric tumors. Am J Surg Pathol. 2012 Jan; 36(1):73-80. PMID: 21989342; PMCID: PMC3477871.
    42. Carter JM, O'Hara C, Dundas G, Gilchrist D, Collins MS, Eaton K, Judkins AR, Biegel J, Folpe AL. Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. Am J Surg Pathol. 2012 Jan; 36(1):154-60. PMID: 22082606; PMCID: PMC3241826.
    43. Dougherty MJ, Tooke LS, Sullivan LM, Hakonarson H, Wainwright LM, Biegel J. Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. Cancer Genet. 2012 Jan-Feb; 205(1-2):42-54. PMID: 22429597.
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    44. Xu J, Erdreich-Epstein A, Gonzalez-Gomez I, Melendez EY, Smbatyan G, Moats RA, Rosol M, Biegel J, Reynolds CP. Novel cell lines established from pediatric brain tumors. J Neurooncol. 2012 Apr; 107(2):269-80. PMID: 22120608; PMCID: PMC3379550.
    45. Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel J, White PS, Gai X, Shaikh TH. Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis. 2011 Nov-Dec; 6(6):592-602. PMID: 22010865; PMCID: PMC4575121.
    46. Santi M, Feygin T, Dougherty MJ, Biegel J, Harding B. Distinctive multicystic hemispheric lesions suggesting a novel variant of infantile astrocytoma. Clin Neuropathol. 2011 Sep-Oct; 30(5):235-41. PMID: 21955927.
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    47. Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V, Biddinger PW, Eaton KW, Biegel J, Sharma S. Molecularly confirmed primary malignant rhabdoid tumor of the urinary bladder: implications of accurate diagnosis. Ann Diagn Pathol. 2012 Dec; 16(6):504-7. PMID: 21775180; PMCID: PMC3448015.
    48. Venneti S, Le P, Martinez D, Eaton KW, Shyam N, Jordan-Sciutto KL, Pawel B, Biegel J, Judkins AR. p16INK4A and p14ARF tumor suppressor pathways are deregulated in malignant rhabdoid tumors. J Neuropathol Exp Neurol. 2011 Jul; 70(7):596-609. PMID: 21666498; PMCID: PMC3145456.
    49. Ortiz-González XR, Venneti S, Biegel J, Rorke-Adams LB, Porter BE. Ganglioglioma arising from dysplastic cortex. Epilepsia. 2011 Sep; 52(9):e106-8. PMID: 21668439.
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    50. Teplick A, Kowalski M, Biegel J, Nichols KE. Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician. Eur J Pediatr. 2011 Mar; 170(3):285-94. PMID: 21210147; PMCID: PMC3086787.
    51. Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel J. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011 Jan; 56(1):7-15. PMID: 21108436; PMCID: PMC3086793.
    52. Plon SE, Wheeler DA, Strong LC, Tomlinson GE, Pirics M, Meng Q, Cheung HC, Begin PR, Muzny DM, Lewis L, Biegel J, Gibbs RA. Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. Cancer Genet. 2011 Jan; 204(1):19-25. PMID: 21356188; PMCID: PMC3075924.
    53. Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel J. Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. Cancer Genet. 2011 Jan; 204(1):26-38. PMID: 21356189.
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    54. Parsons DW, Li M, Zhang X, Jones S, Leary RJ, Lin JC, Boca SM, Carter H, Samayoa J, Bettegowda C, Gallia GL, Jallo GI, Binder ZA, Nikolsky Y, Hartigan J, Smith DR, Gerhard DS, Fults DW, VandenBerg S, Berger MS, Marie SK, Shinjo SM, Clara C, Phillips PC, Minturn JE, Biegel J, Judkins AR, Resnick AC, Storm PB, Curran T, He Y, Rasheed BA, Friedman HS, Keir ST, McLendon R, Northcott PA, Taylor MD, Burger PC, Riggins GJ, Karchin R, Parmigiani G, Bigner DD, Yan H, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE. The genetic landscape of the childhood cancer medulloblastoma. Science. 2011 Jan 28; 331(6016):435-9. PMID: 21163964; PMCID: PMC3110744.
    55. Bruggers CS, Bleyl SB, Pysher T, Barnette P, Afify Z, Walker M, Biegel J. Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011 Jul 01; 56(7):1026-31. PMID: 20848638; PMCID: PMC3210729.
    56. Murray JC, Donahue DJ, Malik SI, Dzurik YB, Braly EZ, Dougherty MJ, Eaton KW, Biegel J. Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome. J Neurooncol. 2011 May; 102(3):509-14. PMID: 20730472; PMCID: PMC2998545.
    57. Dougherty MJ, Santi M, Brose MS, Ma C, Resnick AC, Sievert AJ, Storm PB, Biegel J. Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. Neuro Oncol. 2010 Jul; 12(7):621-30. PMID: 20156809; PMCID: PMC2940652.
    58. Tatard VM, Xiang C, Biegel J, Dahmane N. ZNF238 is expressed in postmitotic brain cells and inhibits brain tumor growth. Cancer Res. 2010 Feb 01; 70(3):1236-46. PMID: 20103640.
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    59. Heuer GG, Kiefer H, Judkins AR, Belasco J, Biegel J, Jackson EM, Cohen M, O'Malley BW, Storm PB. Surgical treatment of a clival-C2 atypical teratoid/rhabdoid tumor. J Neurosurg Pediatr. 2010 Jan; 5(1):75-9. PMID: 20043739; PMCID: PMC2840717.
    60. Nicolaides T, Tihan T, Horn B, Biegel J, Prados M, Banerjee A. High-dose chemotherapy and autologous stem cell rescue for atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol. 2010 May; 98(1):117-23. PMID: 19936623; PMCID: PMC2880232.
    61. Sanchez PV, Perry RL, Sarry JE, Perl AE, Murphy K, Swider CR, Bagg A, Choi JK, Biegel J, Danet-Desnoyers G, Carroll M. A robust xenotransplantation model for acute myeloid leukemia. Leukemia. 2009 Nov; 23(11):2109-17. PMID: 19626050; PMCID: PMC3659827.
    62. Corao DA, Biegel J, Coffin CM, Barr FG, Wainwright LM, Ernst LM, Choi JK, Zhang PJ, Pawel BR. ALK expression in rhabdomyosarcomas: correlation with histologic subtype and fusion status. Pediatr Dev Pathol. 2009 Jul-Aug; 12(4):275-83. PMID: 18788887.
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    63. Sathyamoorthi S, Morales J, Bermudez J, McBride L, Luquette M, McGoey R, Oates N, Hales S, Biegel J, Lacassie Y. Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. Am J Med Genet A. 2009 May; 149A(5):1067-9. PMID: 19334084; PMCID: PMC3102295.
    64. Roberts CW, Biegel J. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009 Mar; 8(5):412-6. PMID: 19305156; PMCID: PMC2709499.
    65. Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel J. 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 15; 15(6):1923-30. PMID: 19276269; PMCID: PMC2668138.
    66. Russo P, Biegel J. SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. 2009 Mar; 52(3):312-3. PMID: 19072985; PMCID: PMC3094586.
    67. Algar EM, Muscat A, Dagar V, Rickert C, Chow CW, Biegel J, Ekert PG, Saffery R, Craig J, Johnstone RW, Ashley DM. Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. PLoS One. 2009; 4(2):e4482. PMID: 19221586; PMCID: PMC2637419.
    68. Attiyeh EF, Diskin SJ, Attiyeh MA, Mossé YP, Hou C, Jackson EM, Kim C, Glessner J, Hakonarson H, Biegel J, Maris JM. Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy. Genome Res. 2009 Feb; 19(2):276-83. PMID: 19141597; PMCID: PMC2652209.
    69. Samaras V, Stamatelli A, Samaras E, Stergiou I, Konstantopoulou P, Varsos V, Judkins AR, Biegel J, Barbatis C. Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol. 2009 Jan-Feb; 28(1):1-10. PMID: 19216214; PMCID: PMC2712356.
    70. Swensen JJ, Keyser J, Coffin CM, Biegel J, Viskochil DH, Williams MS. Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet. 2009 Jan; 46(1):68-72. PMID: 19124645; PMCID: PMC2843150.
    71. Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel J, Rorke-Adams LB, Fisher MJ, Janss A, Mazewski C, Goldman S, Manley PE, Bowers DC, Bendel A, Rubin J, Turner CD, Marcus KJ, Goumnerova L, Ullrich NJ, Kieran MW. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009 Jan 20; 27(3):385-9. PMID: 19064966; PMCID: PMC2645855.
    72. Kreiger PA, Judkins AR, Russo PA, Biegel J, Lestini BJ, Assanasen C, Pawel BR. Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. Mod Pathol. 2009 Jan; 22(1):142-50. PMID: 18997735; PMCID: PMC3094585.
    73. Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel J. 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 Pathol. 2009 Jul; 19(3):449-58. PMID: 19016743; PMCID: PMC2850204.
    74. Wykoff CC, Lam BL, Brathwaite CD, Biegel J, McKeown CA, Rosenblum MK, Allewelt HB, Sandberg DI. Atypical teratoid/rhabdoid tumor arising from the third cranial nerve. J Neuroophthalmol. 2008 Sep; 28(3):207-11. PMID: 18769285; PMCID: PMC2839362.
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    77. Wu Y, Lun X, Zhou H, Wang L, Sun B, Bell JC, Barrett JW, McFadden G, Biegel J, Senger DL, Forsyth PA. Oncolytic efficacy of recombinant vesicular stomatitis virus and myxoma virus in experimental models of rhabdoid tumors. Clin Cancer Res. 2008 Feb 15; 14(4):1218-27. PMID: 18281557; PMCID: PMC2844789.
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    81. Heerema NA, Raimondi SC, Anderson JR, Biegel J, Camitta BM, Cooley LD, Gaynon PS, Hirsch B, Magenis RE, McGavran L, Patil S, Pettenati MJ, Pullen J, Rao K, Roulston D, Schneider NR, Shuster JJ, Sanger W, Sutcliffe MJ, van Tuinen P, Watson MS, Carroll AJ. Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia. Genes Chromosomes Cancer. 2007 Jul; 46(7):684-93. PMID: 17431878.
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    82. Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel J. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet. 2007 Sep; 122(2):117-27. PMID: 17541642.
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    84. Zarovnaya EL, Pallatroni HF, Hug EB, Ball PA, Cromwell LD, Pipas JM, Fadul CE, Meyer LP, Park JP, Biegel J, Perry A, Rhodes CH. Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol. 2007 Aug; 84(1):49-55. PMID: 17377740.
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    85. Donner LR, Wainwright LM, Zhang F, Biegel J. Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. Hum Pathol. 2007 Jun; 38(6):935-9. PMID: 17376508; PMCID: PMC1963314.
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    92. Isakoff MS, Sansam CG, Tamayo P, Subramanian A, Evans JA, Fillmore CM, Wang X, Biegel J, Pomeroy SL, Mesirov JP, Roberts CW. Inactivation of the Snf5 tumor suppressor stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation. Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17745-50. PMID: 16301525; PMCID: PMC1308926.
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    94. Pan E, Pellarin M, Holmes E, Smirnov I, Misra A, Eberhart CG, Burger PC, Biegel J, Feuerstein BG. Isochromosome 17q is a negative prognostic factor in poor-risk childhood medulloblastoma patients. Clin Cancer Res. 2005 Jul 01; 11(13):4733-40. PMID: 16000568.
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    95. Perry A, Fuller CE, Judkins AR, Dehner LP, Biegel J. INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol. 2005 Jul; 18(7):951-8. PMID: 15761491.
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    96. Greco AJ, Baluarte JH, Meyers KE, Sellers MT, Suchi M, Biegel J, Kaplan BS. Chromophobe renal cell carcinoma in a pediatric living-related kidney transplant recipient. Am J Kidney Dis. 2005 Jun; 45(6):e105-8. PMID: 15957121.
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    98. Armstrong G, Szallasi A, Biegel J, Shurtleff S, Bilaniuk LT, Womer RB, Choi JK. Early molecular detection of central nervous system relapse in a child with systemic anaplastic large cell lymphoma: case report and review of the literature. Pediatr Blood Cancer. 2005 Apr; 44(4):400-6. PMID: 15515044.
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    99. Raisanen J, Biegel J, Hatanpaa KJ, Judkins A, White CL, Perry A. Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol. 2005 Jan; 15(1):23-8. PMID: 15779233.
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    100. Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel J. Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol. 2004 Nov; 28(11):1485-91. PMID: 15489652.
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    101. Biegel J, Pollack IF. Molecular analysis of pediatric brain tumors. Curr Oncol Rep. 2004 Nov; 6(6):445-52. PMID: 15485613.
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    102. Hilden JM, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW, Walter AW, Rorke LB, Biegel J. Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol. 2004 Jul 15; 22(14):2877-84. PMID: 15254056.
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    103. Judkins AR, Mauger J, Ht A, Rorke LB, Biegel J. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004 May; 28(5):644-50. PMID: 15105654.
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    104. Nichols KE, Heath JA, Friedman D, Biegel J, Ganguly A, Mauch P, Diller L. TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms. J Clin Oncol. 2003 Dec 15; 21(24):4505-9. PMID: 14673037.
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    106. Zhang F, Tan L, Wainwright LM, Bartolomei MS, Biegel J. No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors. Genes Chromosomes Cancer. 2002 Aug; 34(4):398-405. PMID: 12112529.
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    107. Packer RJ, Biegel J, Blaney S, Finlay J, Geyer JR, Heideman R, Hilden J, Janss AJ, Kun L, Vezina G, Rorke LB, Smith M. Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol. 2002 Jun-Jul; 24(5):337-42. PMID: 12142780.
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    108. Raffini LJ, Slater DJ, Rappaport EF, Lo Nigro L, Cheung NK, Biegel J, Nowell PC, Lange BJ, Felix CA. Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6. Proc Natl Acad Sci U S A. 2002 Apr 02; 99(7):4568-73. PMID: 11930009; PMCID: PMC123688.
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    110. Pomeroy SL, Tamayo P, Gaasenbeek M, Sturla LM, Angelo M, McLaughlin ME, Kim JY, Goumnerova LC, Black PM, Lau C, Allen JC, Zagzag D, Olson JM, Curran T, Wetmore C, Biegel J, Poggio T, Mukherjee S, Rifkin R, Califano A, Stolovitzky G, Louis DN, Mesirov JP, Lander ES, Golub TR. Prediction of central nervous system embryonal tumour outcome based on gene expression. Nature. 2002 Jan 24; 415(6870):436-42. PMID: 11807556.
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    112. Arruda VR, Fields PA, Milner R, Wainwright L, De Miguel MP, Donovan PJ, Herzog RW, Nichols TC, Biegel J, Razavi M, Dake M, Huff D, Flake AW, Couto L, Kay MA, High KA. Lack of germline transmission of vector sequences following systemic administration of recombinant AAV-2 vector in males. Mol Ther. 2001 Dec; 4(6):586-92. PMID: 11735343.
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    113. Knapik J, Yachnis AT, Ripley D, Biegel J, Rathor S, Hardt NS, Talerman A, Wilkinson EJ. Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation. Hum Pathol. 2001 Aug; 32(8):884-6. PMID: 11521235.
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    114. White PS, Thompson PM, Seifried BA, Sulman EP, Jensen SJ, Guo C, Maris JM, Hogarty MD, Allen C, Biegel J, Matise TC, Gregory SG, Reynolds CP, Brodeur GM. Detailed molecular analysis of 1p36 in neuroblastoma. Med Pediatr Oncol. 2001 Jan; 36(1):37-41. PMID: 11464901.
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    115. Biegel J, Fogelgren B, Zhou JY, James CD, Janss AJ, Allen JC, Zagzag D, Raffel C, Rorke LB. Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neuroectodermal tumors of the central nervous system. Clin Cancer Res. 2000 Jul; 6(7):2759-63. PMID: 10914721.
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    117. Grotzer MA, Janss AJ, Fung K, Biegel J, Sutton LN, Rorke LB, Zhao H, Cnaan A, Phillips PC, Lee VM, Trojanowski JQ. TrkC expression predicts good clinical outcome in primitive neuroectodermal brain tumors. J Clin Oncol. 2000 Mar; 18(5):1027-35. PMID: 10694553.
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    118. Zhou J, Fogelgren B, Wang Z, Roe BA, Biegel J. Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2. Gene. 2000 Jan 04; 241(1):133-41. PMID: 10607907.
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    119. Tseng H, Biegel J, Brown RS. Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes. J Cell Sci. 1999 Sep; 112 Pt 18:3039-47. PMID: 10462520.
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    123. Rosson GB, Hazen-Martin DJ, Biegel J, Willingham MC, Garvin AJ, Oswald BW, Wainwright L, Brownlee NA, Wright CF. Establishment and molecular characterization of five cell lines derived from renal and extrarenal malignant rhabdoid tumors. Mod Pathol. 1998 Dec; 11(12):1228-37. PMID: 9872656.
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    124. Kramer DL, Parmiter AH, Rorke LB, Sutton LN, Biegel J. Molecular cytogenetic studies of pediatric ependymomas. J Neurooncol. 1998 Mar; 37(1):25-33. PMID: 9525835.
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    125. Kees UR, Spagnolo D, Hallam LA, Ford J, Ranford PR, Baker DL, Callen DF, Biegel J. A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), and enhanced MYC expression in the absence of gene amplification. Cancer Genet Cytogenet. 1998 Jan 15; 100(2):159-64. PMID: 9428362.
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    126. White PS, Jensen SJ, Rajalingam V, Stairs D, Sulman EP, Maris JM, Biegel J, Wooster R, Brodeur GM. Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and reassignment of SLC2A5 to 1p36.2. Cytogenet Cell Genet. 1998; 81(1):60-4. PMID: 9691177.
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    129. Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel J, Brodeur GM, White PS. Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? Eur J Cancer. 1997 Oct; 33(12):1991-6. PMID: 9516840.
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    131. Slavc I, Rodriguez IR, Mazuruk K, Chader GJ, Biegel J. Mutation analysis and loss of heterozygosity of PEDF in central nervous system primitive neuroectodermal tumors. Int J Cancer. 1997 Jul 17; 72(2):277-82. PMID: 9219833.
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    134. Sulman EP, Tang XX, Allen C, Biegel J, Pleasure DE, Brodeur GM, Ikegaki N. ECK, a human EPH-related gene, maps to 1p36.1, a common region of alteration in human cancers. Genomics. 1997 Mar 01; 40(2):371-4. PMID: 9119409.
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    137. Maris JM, Chatten J, Meadows AT, Biegel J, Brodeur GM. Familial neuroblastoma: a three-generation pedigree and a further association with Hirschsprung disease. Med Pediatr Oncol. 1997 Jan; 28(1):1-5. PMID: 8950328.
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    139. Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel J, Brodeur GM, White PS. Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3. Genomics. 1996 Jul 15; 35(2):289-98. PMID: 8661141.
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    142. Barr FG, Nauta LE, Davis RJ, Schäfer BW, Nycum LM, Biegel J. In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. Hum Mol Genet. 1996 Jan; 5(1):15-21. PMID: 8789435.
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    144. Moscatello DK, Holgado-Madruga M, Godwin AK, Ramirez G, Gunn G, Zoltick PW, Biegel J, Hayes RL, Wong AJ. Frequent expression of a mutant epidermal growth factor receptor in multiple human tumors. Cancer Res. 1995 Dec 01; 55(23):5536-9. PMID: 7585629.
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    145. Davis RJ, Bennicelli JL, Macina RA, Nycum LM, Biegel J, Barr FG. Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma. Hum Mol Genet. 1995 Dec; 4(12):2355-62. PMID: 8634710.
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    149. Jones SM, Phillips PC, Molloy PT, Lange BJ, Needle MN, Bunin GR, Biegel J. Neurologic and other disorders in relatives of pediatric patients with CNS tumors. Pediatr Neurol. 1995 Sep; 13(2):111-6. PMID: 8534275.
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    150. Slavc I, MacCollin MM, Dunn M, Jones S, Sutton L, Gusella JF, Biegel J. Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas. Int J Cancer. 1995 Aug 22; 64(4):243-7. PMID: 7657387.
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    153. White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M, Kaufman BA, Biegel J, Allen C, Hilliard C, Valentine MB, Look AT, Enomoto H, Sakiyama S, Brodeur GM. A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. Proc Natl Acad Sci U S A. 1995 Jun 06; 92(12):5520-4. PMID: 7777541; PMCID: PMC41727.
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    155. Barr FG, Chatten J, D'Cruz CM, Wilson AE, Nauta LE, Nycum LM, Biegel J, Womer RB. Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA. 1995 Feb 15; 273(7):553-7. PMID: 7530783.
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    156. Nakagawara A, Liu XG, Ikegaki N, White PS, Yamashiro DJ, Nycum LM, Biegel J, Brodeur GM. Cloning and chromosomal localization of the human TRK-B tyrosine kinase receptor gene (NTRK2). Genomics. 1995 Jan 20; 25(2):538-46. PMID: 7789988.
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    157. Reddy UR, Nycum L, Slavc I, Biegel J. Localization of the human zipper protein kinase gene (ZPK) to chromosome 12q13 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics. 1995 Jan 20; 25(2):597-8. PMID: 7790002.
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    158. Giovannini M, Biegel J, Serra M, Wang JY, Wei YH, Nycum L, Emanuel BS, Evans GA. EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations. J Clin Invest. 1994 Aug; 94(2):489-96. PMID: 8040301; PMCID: PMC295111.
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    171. Barr FG, Holick J, Nycum L, Biegel J, Emanuel BS. Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics. 1992 Aug; 13(4):1150-6. PMID: 1505949.
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    173. Biegel J, Perilongo G, Rorke LB, Parmiter AH, Emanuel BS. Malignant fibrous histiocytoma of the brain in a six-year-old girl. Genes Chromosomes Cancer. 1992 Jun; 4(4):309-13. PMID: 1377937.
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    174. Perilongo G, Sutton LN, Goldwein JW, Gusnard D, Schut L, Biegel J, Rorke LB, Lange B, D'Angio GJ. Childhood meningiomas. Experience in the modern imaging era. Pediatr Neurosurg. 1992; 18(1):16-23. PMID: 1419837.
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    175. Biegel J, Meek RS, Parmiter AH, Conard K, Emanuel BS. Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma. Genes Chromosomes Cancer. 1991 Nov; 3(6):483-4. PMID: 1663783.
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    176. Barr FG, Biegel J, Sellinger B, Womer RB, Emanuel BS. Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma. Genes Chromosomes Cancer. 1991 Mar; 3(2):153-61. PMID: 2069913.
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    181. Biegel J, Womer RB, Emanuel BS. Complex karyotypes in a series of pediatric osteosarcomas. Cancer Genet Cytogenet. 1989 Mar; 38(1):89-100. PMID: 2713818.
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    182. Biegel J, Belasco JB, Emanuel BS. A unique chromosome translocation, t(7;15), in a pediatric patient with pre-B-cell lymphoma presenting as a primary tumor of bone. Cancer Genet Cytogenet. 1988 Dec; 36(2):211-5. PMID: 3203312.
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    183. Bigner SH, Mark J, Friedman HS, Biegel J, Bigner DD. Structural chromosomal abnormalities in human medulloblastoma. Cancer Genet Cytogenet. 1988 Jan; 30(1):91-101. PMID: 3422050.
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    184. Biegel J, Leslie DS, Bigner DD, Bigner SH. Hydroxyurea synchronization increases mitotic yield in human glioma cell lines. Acta Neuropathol. 1987; 73(3):309-12. PMID: 3618122.
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    185. Bigner SH, Friedman HS, Biegel J, Wikstrand CJ, Mark J, Gebhardt R, Eng LF, Bigner DD. Specific chromosomal abnormalities characterize four established cell lines derived from malignant human gliomas. Acta Neuropathol. 1986; 72(1):86-97. PMID: 2881426.
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