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Jaclyn A. Biegel, PhD

Title(s)Professor of Pathology (Clinical Scholar)
SchoolKeck School of Medicine of USC
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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. 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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    2. Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud. 2019 Feb 12. PMID: 30755392.
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    3. 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 Feb 01. PMID: 30709931.
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    4. 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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    5. 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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    6. 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 Apr; 4(2). PMID: 29581140.
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    7. 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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    8. 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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    9. 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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    10. 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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    11. 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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    12. 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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    13. 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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    14. 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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    15. 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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    16. 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; PMCID: PMC5009478 [Available on 04/01/17].
    17. 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; PMCID: PMC4811493.
    18. 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; PMCID: PMC4864253 [Available on 06/01/17].
    19. 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; PMCID: PMC4738084 [Available on 01/01/17].
    20. 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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    21. 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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    22. 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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    23. 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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    24. 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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    25. 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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    26. 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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    27. 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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    28. Biegel J. Introduction from the editor. Cancer Genet. 2014 Sep; 207(9):345. PMID: 25434579.
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    29. 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; PMCID: PMC4282976.
    30. 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; PMCID: PMC4516040.
    31. 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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    32. 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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    33. 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; PMCID: PMC4161453.
    34. 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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    35. 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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    36. 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; PMCID: PMC3983712.
    37. 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; PMCID: PMC3919509.
    38. 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; PMCID: PMC4063309.
    39. 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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    40. 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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    41. 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; PMCID: PMC3556344.
    42. 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; PMCID: PMC3538080.
    43. 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; PMCID: PMC3484241.
    44. 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; PMCID: PMC3408754.
    45. 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; PMCID: PMC3494085.
    46. 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; PMCID: PMC3241826.
    47. 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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    48. 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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    49. 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; PMCID: PMC3379550.
    50. 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; PMCID: PMC4575121.
    51. 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; PMCID: PMC3448015.
    52. 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; PMCID: PMC3145456.
    53. 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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    54. 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; PMCID: PMC3086787.
    55. 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; PMCID: PMC3075924.
    56. 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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    57. 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; PMCID: PMC3086793.
    58. 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.
    59. 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; PMCID: PMC3210729.
    60. 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; PMCID: PMC2998545.
    61. 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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    62. 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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    63. 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; PMCID: PMC2840717.
    64. 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.
    65. 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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    66. 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; PMCID: PMC3102295.
    67. 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; PMCID: PMC2709499.
    68. Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res. 2009 Mar 15; 15(6):1923-30. PMID: 19276269; PMCID: PMC2668138.
    69. Russo P, Biegel JA. SMARCB1/INI1 alterations and hepatoblastoma: another extrarenal rhabdoid tumor revealed? Pediatr Blood Cancer. 2009 Mar; 52(3):312-3. PMID: 19072985; PMCID: PMC3094586.
    70. 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; PMCID: PMC2637419.
    71. 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; PMCID: PMC2652209.
    72. 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.
    73. 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; PMCID: PMC3094585.
    74. 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; PMCID: PMC2850204.
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    78. 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; PMCID: PMC2844789.
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    80. 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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    82. 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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    83. 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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    84. 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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    85. 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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    86. 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; PMCID: PMC1963314.
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    88. 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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    89. 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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    90. Biegel JA. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus. 2006 Jan 15; 20(1):E11. PMID: 16459991.
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    91. 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.
    92. 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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    93. 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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    94. 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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    95. 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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    96. 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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    98. 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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    99. 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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    100. 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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    101. 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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    102. 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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    103. 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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    104. 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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    106. 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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    107. 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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    108. 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.
    109. Pollack IF, Biegel J, Yates A, Hamilton R, Finkelstein S. Risk assignment in childhood brain tumors: the emerging role of molecular and biologic classification. Curr Oncol Rep. 2002 Mar; 4(2):114-22. PMID: 11822983.
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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 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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