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Jaclyn A. Biegel, PhD

Title(s)Professor of Pathology (Clinical Scholar)
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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. Muskens IS, Zhang C, de Smith AJ, Biegel JA, Walsh KM, Wiemels JL. Germline genetic landscape of pediatric central nervous system (CNS) tumors. Neuro Oncol. 2019 Jun 19. PMID: 31247102.
      View in: PubMed
    2. Mikhail FM, Biegel JA, Cooley LD, Dubuc AM, Hirsch B, Horner VL, Newman S, Shao L, Wolff DJ, Raca G. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). Genet Med. 2019 May 29. PMID: 31138931.
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    3. Tamrazi B, Venneti S, Margol A, Hawes D, Cen SY, Nelson M, Judkins A, Biegel J, Blüml S. Pediatric Atypical Teratoid/Rhabdoid Tumors of the Brain: Identification of Metabolic Subgroups Using In Vivo 1H-MR Spectroscopy. AJNR Am J Neuroradiol. 2019 May; 40(5):872-877. PMID: 30948375.
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    4. Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud. 2019 Apr; 5(2). PMID: 30755392.
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    5. Kaneva K, Yeo KK, Hawes D, Ji J, Biegel JA, Nelson MD, Bluml S, Krieger MD, Erdreich-Epstein A. Rare Pediatric Invasive Gliofibroma Has BRAFV600E Mutation and Transiently Responds to Targeted Therapy Before Progressive Clonal Evolution. JCO Precis Oncol. 2019; 3. PMID: 31179415.
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    6. Sweet-Cordero EA, Biegel JA. The genomic landscape of pediatric cancers: Implications for diagnosis and treatment. Science. 2019 03 15; 363(6432):1170-1175. PMID: 30872516.
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    7. Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Triche TJ, Biegel JA, Gai X. Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. Cancer Res. 2019 Apr 01; 79(7):1318-1330. PMID: 30709931.
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    8. Lorentzian A, Biegel JA, Ostrow DG, Rolf N, Liu CC, Rassekh SR, Deyell RJ, Triche T, Schultz KR, Rozmus J, Reid GSD, Lim CJ, Lange PF, Maxwell CA. Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies. JNCI Cancer Spectr. 2018 Oct; 2(4):pky079. PMID: 30976750.
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    9. Toll SA, Tran HN, Cotter J, Judkins AR, Tamrazi B, Biegel JA, Dhall G, Robison NJ, Waters K, Patel P, Cooper R, Margol AS. Sustained response of three pediatric BRAFV600E mutated high-grade gliomas to combined BRAF and MEK inhibitor therapy. Oncotarget. 2019 Jan 11; 10(4):551-557. PMID: 30728904.
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    10. Ji J, Navid F, Hiemenz MC, Kaneko M, Zhou S, Saitta SC, Biegel JA. Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant. Cancer Genet. 2019 Feb; 231-232:62-66. PMID: 30803559.
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    11. Nesvick CL, Nageswara Rao AA, Raghunathan A, Biegel JA, Daniels DJ. Case-based review: atypical teratoid/rhabdoid tumor. Neurooncol Pract. 2019 May; 6(3):163-178. PMID: 31386032.
      View in: PubMed
    12. Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA. OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 Nov; 20(6):765-776. PMID: 30138724.
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    13. Cotter JA, Szymanski L, Karimov C, Boghossian L, Margol A, Dhall G, Tamrazi B, Varaprasathan GI, Parham DM, Judkins AR, Biegel JA. 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 04; 4(2). PMID: 29581140.
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    14. Moke DJ, Thomas SM, Hiemenz MC, Nael A, Wang K, Shillingford N, Biegel JA, Mascarenhas L. Three synchronous malignancies in a patient with DICER1 syndrome. Eur J Cancer. 2018 04; 93:140-143. PMID: 29395683.
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    15. 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 JA, 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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    16. Busse TM, Roth JJ, Wilmoth D, Wainwright L, Tooke L, Biegel JA. 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.
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    17. Kiehna EN, Arnush MR, Tamrazi B, Cotter JA, Hawes D, Robison NJ, Fong CY, Estrine DB, Han JH, Biegel JA. Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor. J Neurosurg Pediatr. 2017 Jul; 20(1):51-55. PMID: 28387643.
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    18. Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, 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.
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    19. Metts JL, Park SI, Soares BP, Fong C, Biegel JA, 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.
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    20. 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 JA, 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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    21. Perdigones N, Perin JC, Schiano I, Nicholas P, Biegel JA, Mason PJ, Babushok DV, Bessler M. Clonal hematopoiesis in patients with dyskeratosis congenita. Am J Hematol. 2016 12; 91(12):1227-1233. PMID: 27622320.
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    22. Urtishak KA, Robinson BW, Rappaport EF, Sarezky MD, Biegel JA, 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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    23. Roth JJ, Fierst TM, Waanders AJ, Yimei L, Biegel JA, 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.
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    24. Fahiminiya S, Witkowski L, Nadaf J, Carrot-Zhang J, Goudie C, Hasselblatt M, Johann P, Kool M, Lee RS, Gayden T, Roberts CW, Biegel JA, 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.
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    25. Frühwald MC, Biegel JA, 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.
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    26. Betensky M, Babushok D, Roth JJ, Mason PJ, Biegel JA, 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.
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    27. Gossai N, Biegel JA, 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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    28. Li MM, Monzon FA, Biegel JA, 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.
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    29. Folpe AL, Schoolmeester JK, McCluggage WG, Sullivan LM, Castagna K, Ahrens WA, Oliva E, Biegel JA, 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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    30. Salazar EG, Wertheim GB, Biegel JA, 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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    31. 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 JA, 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.
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    32. 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 JA, 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.
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    33. Geller JI, Roth JJ, Biegel JA. Biology and Treatment of Rhabdoid Tumor. Crit Rev Oncog. 2015; 20(3-4):199-216. PMID: 26349416.
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    34. Baughn LB, Biegel JA, 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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    35. Biegel J. Introduction from the editor. Cancer Genet. 2014 Sep; 207(9):345. PMID: 25434579.
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    36. Roth JJ, Santi M, Pollock AN, Harding BN, Rorke-Adams LB, Tooke LS, Biegel JA. 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.
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    37. Biegel JA, 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.
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    38. Bosse KR, Shukla AR, Pawel B, Chikwava KR, Santi M, Tooke L, Castagna K, Biegel JA, 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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    39. Oshrine BR, Olsen MN, Heneghan M, Wertheim G, Daber R, Wilmoth DM, Biegel JA, 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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    40. Roth JJ, Santi M, Rorke-Adams LB, Harding BN, Busse TM, Tooke LS, Biegel JA. 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.
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    41. 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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    42. 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 JA, 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.
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    43. Babushok DV, Li Y, Roth JJ, Perdigones N, Cockroft JD, Biegel JA, 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.
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    44. 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 JA, 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.
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    45. 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 JA, 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.
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    46. Arnold MA, Stallings-Archer K, Marlin E, Grondin R, Olshefski R, Biegel JA, 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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    47. Frank R, Sadri N, Bhatti T, Biegel JA, 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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    48. Sullivan LM, Folpe AL, Pawel BR, Judkins AR, Biegel JA. Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions. Mod Pathol. 2013 Mar; 26(3):385-92. PMID: 23060122.
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    49. Kieran MW, Roberts CW, Chi SN, Ligon KL, Rich BE, Macconaill LE, Garraway LA, Biegel JA. Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors. Pediatr Blood Cancer. 2012 Dec 15; 59(7):1155-7. PMID: 22997201.
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    50. Parikh S, Perdigones N, Paessler M, Greenbaum B, Tooke LS, Biegel JA, 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.
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    51. Lee RS, Stewart C, Carter SL, Ambrogio L, Cibulskis K, Sougnez C, Lawrence MS, Auclair D, Mora J, Golub TR, Biegel JA, 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.
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    52. Hertwig F, Meyer K, Braun S, Ek S, Spang R, Pfenninger CV, Artner I, Prost G, Chen X, Biegel JA, 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.
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    53. Sullivan LM, Yankovich T, Le P, Martinez D, Santi M, Biegel JA, 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.
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    54. Carter JM, O'Hara C, Dundas G, Gilchrist D, Collins MS, Eaton K, Judkins AR, Biegel JA, 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.
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    55. Dougherty MJ, Tooke LS, Sullivan LM, Hakonarson H, Wainwright LM, Biegel JA. 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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    56. Xu J, Erdreich-Epstein A, Gonzalez-Gomez I, Melendez EY, Smbatyan G, Moats RA, Rosol M, Biegel JA, Reynolds CP. Novel cell lines established from pediatric brain tumors. J Neurooncol. 2012 Apr; 107(2):269-80. PMID: 22120608.
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    57. Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, 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.
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    58. Santi M, Feygin T, Dougherty MJ, Biegel JA, 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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    59. Savage N, Linn D, McDonough C, Donohoe JM, Franco A, Reuter V, Biddinger PW, Eaton KW, Biegel JA, 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.
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    60. Venneti S, Le P, Martinez D, Eaton KW, Shyam N, Jordan-Sciutto KL, Pawel B, Biegel JA, 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.
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    61. Ortiz-González XR, Venneti S, Biegel JA, Rorke-Adams LB, Porter BE. Ganglioglioma arising from dysplastic cortex. Epilepsia. 2011 Sep; 52(9):e106-8. PMID: 21668439.
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    62. Teplick A, Kowalski M, Biegel JA, 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.
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    63. Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011 Jan; 56(1):7-15. PMID: 21108436.
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    64. Plon SE, Wheeler DA, Strong LC, Tomlinson GE, Pirics M, Meng Q, Cheung HC, Begin PR, Muzny DM, Lewis L, Biegel JA, 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.
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    65. Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel JA. 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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    66. 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 JA, 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.
    67. Bruggers CS, Bleyl SB, Pysher T, Barnette P, Afify Z, Walker M, Biegel JA. 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.
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    68. Murray JC, Donahue DJ, Malik SI, Dzurik YB, Braly EZ, Dougherty MJ, Eaton KW, Biegel JA. 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.
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    69. Dougherty MJ, Santi M, Brose MS, Ma C, Resnick AC, Sievert AJ, Storm PB, Biegel JA. Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. Neuro Oncol. 2010 Jul; 12(7):621-30. PMID: 20156809.
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    70. Tatard VM, Xiang C, Biegel JA, 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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    71. Heuer GG, Kiefer H, Judkins AR, Belasco J, Biegel JA, 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.
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    72. 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.
    73. Sanchez PV, Perry RL, Sarry JE, Perl AE, Murphy K, Swider CR, Bagg A, Choi JK, Biegel JA, Danet-Desnoyers G, Carroll M. A robust xenotransplantation model for acute myeloid leukemia. Leukemia. 2009 Nov; 23(11):2109-17. PMID: 19626050.
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    74. Corao DA, Biegel JA, 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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    75. Sathyamoorthi S, Morales J, Bermudez J, McBride L, Luquette M, McGoey R, Oates N, Hales S, Biegel JA, 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.
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    76. Roberts CW, Biegel JA. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009 Mar; 8(5):412-6. PMID: 19305156.
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    79. Algar EM, Muscat A, Dagar V, Rickert C, Chow CW, Biegel JA, 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.
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    80. Attiyeh EF, Diskin SJ, Attiyeh MA, Mossé YP, Hou C, Jackson EM, Kim C, Glessner J, Hakonarson H, Biegel JA, 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.
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    81. Samaras V, Stamatelli A, Samaras E, Stergiou I, Konstantopoulou P, Varsos V, Judkins AR, Biegel JA, 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.
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    82. Swensen JJ, Keyser J, Coffin CM, Biegel JA, 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.
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    83. Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA, 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.
    84. Kreiger PA, Judkins AR, Russo PA, Biegel JA, 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.
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    85. 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 Pathol. 2009 Jul; 19(3):449-58. PMID: 19016743.
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    86. Wykoff CC, Lam BL, Brathwaite CD, Biegel JA, 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.
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    87. McKenna ES, Sansam CG, Cho YJ, Greulich H, Evans JA, Thom CS, Moreau LA, Biegel JA, Pomeroy SL, Roberts CW. Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol. 2008 Oct; 28(20):6223-33. PMID: 18710953.
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    88. Kim A, Cook R, Wainwright L, Biegel J, Schuster S, Wasik M. Dramatic response of acute monoblastic leukemia to a single dose of docetaxel. Leuk Lymphoma. 2008 Mar; 49(3):577-80. PMID: 18297537.
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    89. Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat. 2008 Mar; 29(3):433-40. PMID: 18033723.
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    90. Wu Y, Lun X, Zhou H, Wang L, Sun B, Bell JC, Barrett JW, McFadden G, Biegel JA, 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.
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    91. Wagner LM, Garrett JK, Ballard ET, Hill DA, Perry A, Biegel JA, Collins MH. Malignant rhabdoid tumor mimicking hepatoblastoma: a case report and literature review. Pediatr Dev Pathol. 2007 Sep-Oct; 10(5):409-15. PMID: 17929989.
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    92. Whitmore RG, Krejza J, Kapoor GS, Huse J, Woo JH, Bloom S, Lopinto J, Wolf RL, Judy K, Rosenfeld MR, Biegel JA, Melhem ER, O'Rourke DM. Prediction of oligodendroglial tumor subtype and grade using perfusion weighted magnetic resonance imaging. J Neurosurg. 2007 Sep; 107(3):600-9. PMID: 17886561.
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    93. Jackson EM, Shaikh TH, Zhang F, Wainwright LM, Storm PB, Hakonarson H, Zackai EH, Biegel JA. Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2007 Aug 01; 143A(15):1767-70. PMID: 17603804.
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    94. 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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    95. 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. Hum Genet. 2007 Sep; 122(2):117-27. PMID: 17541642.
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    96. Chacko G, Chacko AG, Dunham CP, Judkins AR, Biegel JA, Perry A. Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol. 2007 Sep; 84(2):217-22. PMID: 17431546.
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    97. Zarovnaya EL, Pallatroni HF, Hug EB, Ball PA, Cromwell LD, Pipas JM, Fadul CE, Meyer LP, Park JP, Biegel JA, 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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    98. Donner LR, Wainwright LM, Zhang F, Biegel JA. Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. Hum Pathol. 2007 Jun; 38(6):935-9. PMID: 17376508.
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    99. Charboneau A, Chai J, Jordan J, Funkhouser W, Judkins A, Biegel J, Weissman B. P-Akt expression distinguishes two types of malignant rhabdoid tumors. J Cell Physiol. 2006 Nov; 209(2):422-7. PMID: 16897758.
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    100. Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, Pridjian G, Tan L, Judkins AR, Biegel JA. Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer. 2006 Sep; 47(3):279-84. PMID: 16261613.
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    101. Bunin GR, Robison LL, Biegel JA, Pollack IF, Rorke-Adams LB. Parental heat exposure and risk of childhood brain tumor: a Children's Oncology Group study. Am J Epidemiol. 2006 Aug 01; 164(3):222-31. PMID: 16775044.
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    102. Meyers SP, Khademian ZP, Biegel JA, Chuang SH, Korones DN, Zimmerman RA. Primary intracranial atypical teratoid/rhabdoid tumors of infancy and childhood: MRI features and patient outcomes. AJNR Am J Neuroradiol. 2006 May; 27(5):962-71. PMID: 16687525.
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    103. Biegel JA. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006 Jan 15; 20(1):E11. PMID: 16459991.
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    104. Allen JC, Judkins AR, Rosenblum MK, Biegel JA. Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro Oncol. 2006 Jan; 8(1):79-82. PMID: 16443951; PMCID: PMC1871926.
    105. Isakoff MS, Sansam CG, Tamayo P, Subramanian A, Evans JA, Fillmore CM, Wang X, Biegel JA, 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.
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    106. Mosse YP, Greshock J, Margolin A, Naylor T, Cole K, Khazi D, Hii G, Winter C, Shahzad S, Asziz MU, Biegel JA, Weber BL, Maris JM. High-resolution detection and mapping of genomic DNA alterations in neuroblastoma. Genes Chromosomes Cancer. 2005 Aug; 43(4):390-403. PMID: 15892104.
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    107. Pan E, Pellarin M, Holmes E, Smirnov I, Misra A, Eberhart CG, Burger PC, Biegel JA, 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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    108. Perry A, Fuller CE, Judkins AR, Dehner LP, Biegel JA. 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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    109. Greco AJ, Baluarte JH, Meyers KE, Sellers MT, Suchi M, Biegel JA, 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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    110. Judkins AR, Burger PC, Hamilton RL, Kleinschmidt-DeMasters B, Perry A, Pomeroy SL, Rosenblum MK, Yachnis AT, Zhou H, Rorke LB, Biegel JA. INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol. 2005 May; 64(5):391-7. PMID: 15892296.
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    111. Armstrong G, Szallasi A, Biegel JA, 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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    112. Raisanen J, Biegel JA, 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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    113. Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel JA. 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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    114. Biegel JA, Pollack IF. Molecular analysis of pediatric brain tumors. Curr Oncol Rep. 2004 Nov; 6(6):445-52. PMID: 15485613.
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    115. Hilden JM, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW, Walter AW, Rorke LB, Biegel JA. 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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    116. Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA. 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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    117. Nichols KE, Heath JA, Friedman D, Biegel JA, 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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    118. Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB. Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res. 2002 Nov; 8(11):3461-7. PMID: 12429635.
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    119. Zhang F, Tan L, Wainwright LM, Bartolomei MS, Biegel JA. 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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    120. Packer RJ, Biegel JA, 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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    121. Raffini LJ, Slater DJ, Rappaport EF, Lo Nigro L, Cheung NK, Biegel JA, 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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    123. 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 JA, 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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    124. Biegel JA, Kalpana G, Knudsen ES, Packer RJ, Roberts CW, Thiele CJ, Weissman B, Smith M. The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res. 2002 Jan 01; 62(1):323-8. PMID: 11782395.
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    125. Arruda VR, Fields PA, Milner R, Wainwright L, De Miguel MP, Donovan PJ, Herzog RW, Nichols TC, Biegel JA, 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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    126. Knapik J, Yachnis AT, Ripley D, Biegel JA, 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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    127. White PS, Thompson PM, Seifried BA, Sulman EP, Jensen SJ, Guo C, Maris JM, Hogarty MD, Allen C, Biegel JA, 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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    128. Biegel JA, 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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    129. Biegel JA, Fogelgren B, Wainwright LM, Zhou JY, Bevan H, Rorke LB. Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer. 2000 May; 28(1):31-7. PMID: 10738300.
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    130. Grotzer MA, Janss AJ, Fung K, Biegel JA, 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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    131. Zhou J, Fogelgren B, Wang Z, Roe BA, Biegel JA. 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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    132. Zurawel RH, Allen C, Chiappa S, Cato W, Biegel J, Cogen P, de Sauvage F, Raffel C. Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma. Genes Chromosomes Cancer. 2000 Jan; 27(1):44-51. PMID: 10564585.
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    133. Tseng H, Biegel JA, 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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    134. Biegel JA. Cytogenetics and molecular genetics of childhood brain tumors. Neuro Oncol. 1999 04; 1(2):139-51. PMID: 11550309; PMCID: PMC1920753.
    135. White FV, Dehner LP, Belchis DA, Conard K, Davis MM, Stocker JT, Zuppan CW, Biegel JA, Perlman EJ. Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am J Surg Pathol. 1999 Mar; 23(3):249-56. PMID: 10078913.
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    136. 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 Res. 1999 Jan 01; 59(1):74-9. PMID: 9892189.
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    137. Rosson GB, Hazen-Martin DJ, Biegel JA, 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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    138. Kramer DL, Parmiter AH, Rorke LB, Sutton LN, Biegel JA. Molecular cytogenetic studies of pediatric ependymomas. J Neurooncol. 1998 Mar; 37(1):25-33. PMID: 9525835.
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    139. Kees UR, Spagnolo D, Hallam LA, Ford J, Ranford PR, Baker DL, Callen DF, Biegel JA. 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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    140. White PS, Jensen SJ, Rajalingam V, Stairs D, Sulman EP, Maris JM, Biegel JA, 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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    141. Pellegrino JE, George RA, Biegel J, Farlow MR, Gardner K, Caress J, Brown MJ, Rebbeck TR, Bird TD, Chance PF. Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. Hum Genet. 1997 Dec; 101(3):277-83. PMID: 9439655.
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    142. Biegel JA. Genetics of pediatric central nervous system tumors. J Pediatr Hematol Oncol. 1997 Nov-Dec; 19(6):492-501. PMID: 9407934.
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    143. White PS, Maris JM, Sulman EP, Jensen SJ, Kyemba SM, Beltinger CP, Allen C, Kramer DL, Biegel JA, Brodeur GM. Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma. Eur J Cancer. 1997 Oct; 33(12):1957-61. PMID: 9516832.
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    144. Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, 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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    145. Maris JM, Kyemba SM, Rebbeck TR, White PS, Sulman EP, Jensen SJ, Allen C, Biegel JA, Brodeur GM. Molecular genetic analysis of familial neuroblastoma. Eur J Cancer. 1997 Oct; 33(12):1923-8. PMID: 9516825.
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    146. Slavc I, Rodriguez IR, Mazuruk K, Chader GJ, Biegel JA. 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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    147. Reddy UR, Phatak S, Allen C, Nycum LM, Sulman EP, White PS, Biegel JA. Localization of the human Ror1 gene (NTRKR1) to chromosome 1p31-p32 by fluorescence in situ hybridization and somatic cell hybrid analysis. Genomics. 1997 Apr 15; 41(2):283-5. PMID: 9143508.
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    148. Rorke LB, Trojanowski JQ, Lee VM, Zimmerman RA, Sutton LN, Biegel JA, Goldwein JW, Packer RJ. Primitive neuroectodermal tumors of the central nervous system. Brain Pathol. 1997 Apr; 7(2):765-84. PMID: 9161728.
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    149. Sulman EP, Tang XX, Allen C, Biegel JA, 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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    150. Biegel JA, Janss AJ, Raffel C, Sutton L, Rorke LB, Harper JM, Phillips PC. Prognostic significance of chromosome 17p deletions in childhood primitive neuroectodermal tumors (medulloblastomas) of the central nervous system. Clin Cancer Res. 1997 Mar; 3(3):473-8. PMID: 9815707.
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    151. Biegel JA, Wentz E. No preferential parent of origin for the isochromosome 17q in childhood primitive neuroectodermal tumor (medulloblastoma). Genes Chromosomes Cancer. 1997 Feb; 18(2):143-6. PMID: 9115964.
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    152. Maris JM, Chatten J, Meadows AT, Biegel JA, 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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    153. Maris JM, Kyemba SM, Rebbeck TR, White PS, Sulman EP, Jensen SJ, Allen C, Biegel JA, Yanofsky RA, Feldman GL, Brodeur GM. Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res. 1996 Aug 01; 56(15):3421-5. PMID: 8758905.
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    154. Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, 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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    155. Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Driscoll D, Goldmuntz E, Meese E, Zwarthoff EC, Williams S, McDermid H, Dumanski JP, Biegel J, Bell CJ, Emanuel BS. Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics. 1996 Jul 15; 35(2):275-88. PMID: 8661140.
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    156. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg. 1996 Jul; 85(1):56-65. PMID: 8683283.
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    157. Biegel JA, Allen CS, Kawasaki K, Shimizu N, Budarf ML, Bell CJ. Narrowing the critical region for a rhabdoid tumor locus in 22q11. Genes Chromosomes Cancer. 1996 Jun; 16(2):94-105. PMID: 8818656.
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    158. Barr FG, Nauta LE, Davis RJ, Schäfer BW, Nycum LM, Biegel JA. 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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    159. Felix CA, Slavc I, Dunn M, Strauss EA, Phillips PC, Rorke LB, Sutton L, Bunin GR, Biegel JA. p53 gene mutations in pediatric brain tumors. Med Pediatr Oncol. 1995 Dec; 25(6):431-6. PMID: 7565304.
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    160. Moscatello DK, Holgado-Madruga M, Godwin AK, Ramirez G, Gunn G, Zoltick PW, Biegel JA, 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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    161. Davis RJ, Bennicelli JL, Macina RA, Nycum LM, Biegel JA, 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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    162. Ikegaki N, Tang XX, Liu XG, Biegel JA, Allen C, Yoshioka A, Sulman EP, Brodeur GM, Pleasure DE. Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein-tyrosine kinase gene of the EPH family. Hum Mol Genet. 1995 Nov; 4(11):2033-45. PMID: 8589679.
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    163. Biegel JA, Rorke LB, Janss AJ, Sutton LN, Parmiter AH. Isochromosome 17q demonstrated by interphase fluorescence in situ hybridization in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer. 1995 Oct; 14(2):85-96. PMID: 8527398.
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    164. Tang XX, Biegel JA, Nycum LM, Yoshioka A, Brodeur GM, Pleasure DE, Ikegaki N. cDNA cloning, molecular characterization, and chromosomal localization of NET(EPHT2), a human EPH-related receptor protein-tyrosine kinase gene preferentially expressed in brain. Genomics. 1995 Sep 20; 29(2):426-37. PMID: 8666391.
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    165. Jones SM, Phillips PC, Molloy PT, Lange BJ, Needle MN, Bunin GR, Biegel JA. 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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    166. Slavc I, MacCollin MM, Dunn M, Jones S, Sutton L, Gusella JF, Biegel JA. 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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    167. Jones SM, Phillips PC, Molloy PT, Lange BJ, Needle MN, Biegel JA. Congenital anomalies and genetic disorders in families of children with central nervous system tumours. J Med Genet. 1995 Aug; 32(8):627-32. PMID: 7473655; PMCID: PMC1051638.
    168. Mourelatos Z, Gonatas JO, Nycum LM, Gonatas NK, Biegel JA. Assignment of the GLG1 gene for MGF-160, a fibroblast growth factor and E-selectin binding membrane sialoglycoprotein of the Golgi apparatus, to chromosome 16q22-q23 by fluorescence in situ hybridization. Genomics. 1995 Jul 20; 28(2):354-5. PMID: 8530051.
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    169. White PS, Maris JM, Beltinger C, Sulman E, Marshall HN, Fujimori M, Kaufman BA, Biegel JA, 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.
    170. Biegel JA, Nycum LM, Valentine V, Barr FG, Shapiro DN. Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization. Genes Chromosomes Cancer. 1995 Mar; 12(3):186-92. PMID: 7536457.
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    171. Barr FG, Chatten J, D'Cruz CM, Wilson AE, Nauta LE, Nycum LM, Biegel JA, 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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    172. Nakagawara A, Liu XG, Ikegaki N, White PS, Yamashiro DJ, Nycum LM, Biegel JA, 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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    173. Reddy UR, Nycum L, Slavc I, Biegel JA. 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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    174. Rorke LB, Packer R, Biegel J. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol. 1995; 24(1):21-8. PMID: 8523069.
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    175. Giovannini M, Biegel JA, 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.
    176. Davis RJ, D'Cruz CM, Lovell MA, Biegel JA, Barr FG. Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res. 1994 Jun 01; 54(11):2869-72. PMID: 8187070.
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    177. Biegel JA, Parmiter AH, Sutton LN, Rorke LB, Emanuel BS. Abnormalities of chromosome 22 in pediatric meningiomas. Genes Chromosomes Cancer. 1994 Feb; 9(2):81-7. PMID: 7513548.
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    178. Kees UR, Biegel JA, Ford J, Ranford PR, Peroni SE, Hallam LA, Parmiter AH, Willoughby ML, Spagnolo D. Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines. Genes Chromosomes Cancer. 1994 Feb; 9(2):129-35. PMID: 7513543.
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    179. Felix CA, Brown DL, Mitsudomi T, Ikagaki N, Wong A, Wasserman R, Womer RB, Biegel JA. Polymorphism at codon 36 of the p53 gene. Oncogene. 1994 Jan; 9(1):327-8. PMID: 8302598.
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    180. Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet. 1993 Oct; 30(10):807-12. PMID: 7901419; PMCID: PMC1016559.
    181. Biegel JA, Conard K, Brooks JJ. Translocation (11;22)(p13;q12): primary change in intra-abdominal desmoplastic small round cell tumor. Genes Chromosomes Cancer. 1993 Jun; 7(2):119-21. PMID: 7687454.
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    182. Perilongo G, Felix CA, Meadows AT, Nowell P, Biegel J, Lange BJ. Sequential development of Wilms tumor, T-cell acute lymphoblastic leukemia, medulloblastoma and myeloid leukemia in a child with type 1 neurofibromatosis: a clinical and cytogenetic case report. Leukemia. 1993 Jun; 7(6):912-5. PMID: 8388972.
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    183. Spinner NB, Biegel JA, Sovinsky L, McDonald-McGinn D, Rehberg K, Parmiter AH, Zackai EH. 46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. Am J Med Genet. 1993 Apr 01; 46(1):95-7. PMID: 8494037.
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    184. Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993 Feb; 3(2):113-7. PMID: 8098985.
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    185. Biegel JA, White PS, Marshall HN, Fujimori M, Zackai EH, Scher CD, Brodeur GM, Emanuel BS. Constitutional 1p36 deletion in a child with neuroblastoma. Am J Hum Genet. 1993 Jan; 52(1):176-82. PMID: 8434586; PMCID: PMC1682134.
    186. Emanuel BS, Driscoll D, Goldmuntz E, Baldwin S, Biegel J, Zackai EH, McDonald-McGinn D, Sellinger B, Gorman N, Williams S. Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. Prog Clin Biol Res. 1993; 384:207-24. PMID: 8115404.
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    187. Giovannini M, Selleri L, Biegel JA, Scotlandi K, Emanuel BS, Evans GA. Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors. J Clin Invest. 1992 Nov; 90(5):1911-8. PMID: 1430213; PMCID: PMC443252.
    188. Yachnis AT, Rorke LB, Biegel JA, Perilongo G, Zimmerman RA, Sutton LN. Desmoplastic primitive neuroectodermal tumor with divergent differentiation. Broadening the spectrum of desmoplastic infantile neuroepithelial tumors. Am J Surg Pathol. 1992 Oct; 16(10):998-1006. PMID: 1384373.
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    189. Biegel JA, Burk CD, Parmiter AH, Emanuel BS. Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor. Genes Chromosomes Cancer. 1992 Sep; 5(2):104-8. PMID: 1381945.
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    190. Barr FG, Holick J, Nycum L, Biegel JA, 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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    191. Biegel JA, Burk CD, Barr FG, Emanuel BS. Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors. Cancer Res. 1992 Jun 15; 52(12):3391-5. PMID: 1596898.
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    192. Biegel JA, 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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    193. Perilongo G, Sutton LN, Goldwein JW, Gusnard D, Schut L, Biegel JA, 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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    194. Biegel JA, 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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    195. Barr FG, Biegel JA, 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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    196. Perilongo G, Sutton L, Czaykowski D, Gusnard D, Biegel J. Rhabdoid tumor of the central nervous system. Med Pediatr Oncol. 1991; 19(4):310-7. PMID: 2056976.
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    197. Biegel JA, Rorke LB, Packer RJ, Emanuel BS. Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg. 1990 Nov; 73(5):710-4. PMID: 2213160.
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    198. Baker DL, Reddy UR, Pleasure S, Hardy M, Williams M, Tartaglione M, Biegel JA, Emanuel BS, Lo Presti P, Kreider B. Human central nervous system primitive neuroectodermal tumor expressing nerve growth factor receptors: CHP707m. Ann Neurol. 1990 Aug; 28(2):136-45. PMID: 2171417.
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    199. Takahashi H, Belser PH, Atkinson BF, Sela BA, Ross AH, Biegel J, Emanuel B, Sutton L, Koprowski H, Herlyn D. Monoclonal antibody-dependent, cell-mediated cytotoxicity against human malignant gliomas. Neurosurgery. 1990 Jul; 27(1):97-102. PMID: 1695996.
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    200. Biegel JA, Rorke LB, Packer RJ, Sutton LN, Schut L, Bonner K, Emanuel BS. Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system. Genes Chromosomes Cancer. 1989 Nov; 1(2):139-47. PMID: 2487154.
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    201. Biegel JA, Rorke LB, Emanuel BS. Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. N Engl J Med. 1989 Sep 28; 321(13):906. PMID: 2770830.
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    202. Biegel JA, 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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    203. Biegel JA, 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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    204. Bigner SH, Mark J, Friedman HS, Biegel JA, Bigner DD. Structural chromosomal abnormalities in human medulloblastoma. Cancer Genet Cytogenet. 1988 Jan; 30(1):91-101. PMID: 3422050.
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    205. Biegel JA, 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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    206. Bigner SH, Friedman HS, Biegel JA, 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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    207. Conner MK, Cheng M, Biegel JA. A path probability model for sister-chromatid exchanges induced by alkylating agents. Mutat Res. 1984 Mar; 126(1):35-46. PMID: 6700613.
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    208. Schwartz GN, Biegel JA, Fisher B, Klein I. Spirogermanium: effects on hematopoietic stem cells and survival of normal and tumor-bearing mice. Proc Soc Exp Biol Med. 1983 Jun; 173(2):176-80. PMID: 6866997.
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    209. Biegel JA, Conner MK, Boggs SS. Cellular replication kinetics and persistence of sister chromatid exchange-inducing lesions in normal and lymphoma AKR cells following exposure to 1,3-bis(2-chloroethyl)-1-nitrosourea. Cancer Res. 1982 Jul; 42(7):2816-20. PMID: 7083172.
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    210. Biegel JA, Boggs SS, Conner MK. In vivo sister chromatid exchange and cellular replication kinetics of normal and lymphoma AKR bone marrow cells. Cancer Res. 1982 Jul; 42(7):2813-5. PMID: 7083171.
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    211. Schwartz GN, Biegel JA, Boggs SS. A model to study drug effects on lymphoma and normal cell populations using the AKR/J mouse. Leuk Res. 1982; 6(2):269-79. PMID: 7186089.
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    212. Biegel JA, Boggs SS, Conner MK. Comparison of BCNU-induced SCE in bone-marrow cells of AKR/J and BDF1 mice. Mutat Res. 1980 Sep; 79(1):87-90. PMID: 7432369.
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    213. BIEGEL J, HAHN J. [THE SIGNIFICANCE OF AFIBRINOGENEMIA FOR THE OBSTETRICIAN]. Zentralbl Gynakol. 1964 Aug 01; 86:1089-97. PMID: 14249749.
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