Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 213

1.

Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies.

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.

JNCI Cancer Spectr. 2018 Oct;2(4):pky079. doi: 10.1093/jncics/pky079. Epub 2019 Jan 25.

2.

Pediatric Atypical Teratoid/Rhabdoid Tumors of the Brain: Identification of Metabolic Subgroups Using In Vivo 1H-MR Spectroscopy.

Tamrazi B, Venneti S, Margol A, Hawes D, Cen SY, Nelson M, Judkins A, Biegel J, Blüml S.

AJNR Am J Neuroradiol. 2019 May;40(5):872-877. doi: 10.3174/ajnr.A6024. Epub 2019 Apr 4.

PMID:
30948375
3.

The genomic landscape of pediatric cancers: Implications for diagnosis and treatment.

Sweet-Cordero EA, Biegel JA.

Science. 2019 Mar 15;363(6432):1170-1175. doi: 10.1126/science.aaw3535. Review.

PMID:
30872516
4.

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

Ji J, Navid F, Hiemenz MC, Kaneko M, Zhou S, Saitta SC, Biegel JA.

Cancer Genet. 2019 Feb;231-232:62-66. doi: 10.1016/j.cancergen.2018.12.006. Epub 2018 Dec 30.

PMID:
30803559
5.

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003756. doi: 10.1101/mcs.a003756. Print 2019 Apr.

6.

Sustained response of three pediatric BRAFV600E mutated high-grade gliomas to combined BRAF and MEK inhibitor therapy.

Toll SA, Tran HN, Cotter J, Judkins AR, Tamrazi B, Biegel JA, Dhall G, Robison NJ, Waters K, Patel P, Cooper R, Margol AS.

Oncotarget. 2019 Jan 11;10(4):551-557. doi: 10.18632/oncotarget.26560. eCollection 2019 Jan 11.

7.

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.

Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Triche TJ Jr, Biegel JA, Gai X.

Cancer Res. 2019 Apr 1;79(7):1318-1330. doi: 10.1158/0008-5472.CAN-18-2220. Epub 2019 Feb 1.

PMID:
30709931
8.

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

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.

J Mol Diagn. 2018 Nov;20(6):765-776. doi: 10.1016/j.jmoldx.2018.06.009. Epub 2018 Aug 20.

PMID:
30138724
9.

Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner.

Cotter JA, Szymanski L, Karimov C, Boghossian L, Margol A, Dhall G, Tamrazi B, Varaprasathan GI, Parham DM, Judkins AR, Biegel JA.

Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2). pii: a002576. doi: 10.1101/mcs.a002576. Print 2018 Apr. Review.

10.

Three synchronous malignancies in a patient with DICER1 syndrome.

Moke DJ, Thomas SM, Hiemenz MC, Nael A, Wang K, Shillingford N, Biegel JA, Mascarenhas L.

Eur J Cancer. 2018 Apr;93:140-143. doi: 10.1016/j.ejca.2017.12.021. Epub 2018 Jan 31. No abstract available.

PMID:
29395683
11.

Positive-sense RNA viruses reveal the complexity and dynamics of the cellular and viral epitranscriptomes during infection.

McIntyre W, Netzband R, Bonenfant G, Biegel JM, Miller C, Fuchs G, Henderson E, Arra M, Canki M, Fabris D, Pager CT.

Nucleic Acids Res. 2018 Jun 20;46(11):5776-5791. doi: 10.1093/nar/gky029.

12.

Somatic HLA Mutations Expose the Role of Class I-Mediated Autoimmunity in Aplastic Anemia and its Clonal Complications.

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.

Blood Adv. 2017 Oct 10;1(22):1900-1910.

13.

Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients.

Busse TM, Roth JJ, Wilmoth D, Wainwright L, Tooke L, Biegel JA.

Genes Chromosomes Cancer. 2017 Oct;56(10):730-749. doi: 10.1002/gcc.22477. Epub 2017 Jul 1.

PMID:
28597942
14.

Cellular DEAD-box RNA helicase DDX6 modulates interaction of miR-122 with the 5' untranslated region of hepatitis C virus RNA.

Biegel JM, Henderson E, Cox EM, Bonenfant G, Netzband R, Kahn S, Eager R, Pager CT.

Virology. 2017 Jul;507:231-241. doi: 10.1016/j.virol.2017.04.014. Epub 2017 Apr 26.

15.

Novel GOPC(FIG)-ROS1 fusion in a pediatric high-grade glioma survivor.

Kiehna EN, Arnush MR, Tamrazi B, Cotter JA, Hawes D, Robison NJ, Fong CY, Estrine DB, Han JH, Biegel JA.

J Neurosurg Pediatr. 2017 Jul;20(1):51-55. doi: 10.3171/2017.2.PEDS16679. Epub 2017 Apr 7.

PMID:
28387643
16.

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L.

Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28.

PMID:
28371217
17.

Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation.

Metts JL, Park SI, Soares BP, Fong C, Biegel JA, Goldsmith KC.

Pediatr Blood Cancer. 2017 Sep;64(9). doi: 10.1002/pbc.26460. Epub 2017 Jan 23.

PMID:
28111898
18.

SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation.

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.

Nat Genet. 2017 Feb;49(2):289-295. doi: 10.1038/ng.3746. Epub 2016 Dec 12.

19.

Clonal hematopoiesis in patients with dyskeratosis congenita.

Perdigones N, Perin JC, Schiano I, Nicholas P, Biegel JA, Mason PJ, Babushok DV, Bessler M.

Am J Hematol. 2016 Dec;91(12):1227-1233. doi: 10.1002/ajh.24552. Epub 2016 Oct 21.

20.

Unique Familial MLL(KMT2A)-Rearranged Precursor B-Cell Infant Acute Lymphoblastic Leukemia in Non-twin Siblings.

Urtishak KA, Robinson BW, Rappaport EF, Sarezky MD, Biegel JA, Nichols KE, Wilmoth DM, Wang LS, Stern JW, Felix CA.

Pediatr Blood Cancer. 2016 Jul;63(7):1175-80. doi: 10.1002/pbc.25957. Epub 2016 Mar 21.

PMID:
26999444
21.

Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status.

Roth JJ, Fierst TM, Waanders AJ, Yimei L, Biegel JA, Santi M.

J Neuropathol Exp Neurol. 2016 Apr;75(4):306-15. doi: 10.1093/jnen/nlw001. Epub 2016 Mar 4.

22.

Hepatitis C Virus Exploitation of Processing Bodies.

Biegel JM, Pager CT.

J Virol. 2016 Apr 29;90(10):4860-4863. doi: 10.1128/JVI.03056-15. Print 2016 May 15. Review.

23.

Atypical teratoid/rhabdoid tumors-current concepts, advances in biology, and potential future therapies.

Frühwald MC, Biegel JA, Bourdeaut F, Roberts CW, Chi SN.

Neuro Oncol. 2016 Jun;18(6):764-78. doi: 10.1093/neuonc/nov264. Epub 2016 Jan 10. Review. Erratum in: Neuro Oncol. 2016 Sep;18(9):1329.

24.

Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia.

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.

Cancer Genet. 2016 Jan-Feb;209(1-2):1-10. doi: 10.1016/j.cancergen.2015.10.002. Epub 2015 Oct 30.

25.

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.

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.

Oncotarget. 2016 Jan 12;7(2):1732-40. doi: 10.18632/oncotarget.6459.

26.

Mixed Phenotype Acute Leukemia with Low Hypodiploidy in a Pediatric Patient.

Salazar EG, Wertheim GB, Biegel JA, Hwang W, Tasian SK, Rheingold SR.

J Pediatr Oncol. 2015;3(1):24-28. Epub 2015 Mar 25.

27.

A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays.

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.

Cancer Genet. 2015 Nov;208(11):525-36. doi: 10.1016/j.cancergen.2015.08.002. Epub 2015 Aug 28.

PMID:
26454669
28.

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL.

Am J Med Genet A. 2015 Dec;167A(12):3186-91. doi: 10.1002/ajmg.a.37356. Epub 2015 Sep 14.

PMID:
26364901
29.

Biology and Treatment of Rhabdoid Tumor.

Geller JI, Roth JJ, Biegel JA.

Crit Rev Oncog. 2015;20(3-4):199-216. Review.

30.

Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia.

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.

Cancer Genet. 2015 Apr;208(4):115-28. doi: 10.1016/j.cancergen.2015.01.007. Epub 2015 Feb 2.

31.

Integration of cytogenomic data for furthering the characterization of pediatric B-cell acute lymphoblastic leukemia: a multi-institution, multi-platform microarray study.

Baughn LB, Biegel JA, South ST, Smolarek TA, Volkert S, Carroll AJ, Heerema NA, Rabin KR, Zweidler-McKay PA, Loh M, Hirsch B.

Cancer Genet. 2015 Jan-Feb;208(1-2):1-18. doi: 10.1016/j.cancergen.2014.11.003. Epub 2014 Nov 21.

32.

SMARCB1-deficient Vulvar Neoplasms: A Clinicopathologic, Immunohistochemical, and Molecular Genetic Study of 14 Cases.

Folpe AL, Schoolmeester JK, McCluggage WG, Sullivan LM, Castagna K, Ahrens WA, Oliva E, Biegel JA, Nielsen GP.

Am J Surg Pathol. 2015 Jun;39(6):836-49. doi: 10.1097/PAS.0000000000000397.

PMID:
25651469
33.

Disrupting LIN28 in atypical teratoid rhabdoid tumors reveals the importance of the mitogen activated protein kinase pathway as a therapeutic target.

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.

Oncotarget. 2015 Feb 20;6(5):3165-77.

34.

Introduction from the editor.

Biegel J.

Cancer Genet. 2014 Sep;207(9):345. doi: 10.1016/j.cancergen.2014.10.009. Epub 2014 Oct 31. No abstract available.

PMID:
25434579
35.

SWI/SNF chromatin remodeling complexes and cancer.

Biegel JA, Busse TM, Weissman BE.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):350-66. doi: 10.1002/ajmg.c.31410. Epub 2014 Aug 28. Review.

36.

Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas.

Roth JJ, Santi M, Pollock AN, Harding BN, Rorke-Adams LB, Tooke LS, Biegel JA.

Brain Pathol. 2015 Mar;25(2):182-92. doi: 10.1111/bpa.12167. Epub 2014 Sep 12.

37.

Malignant rhabdoid tumor of the bladder and ganglioglioma in a 14 year-old male with a germline 22q11.2 deletion.

Bosse KR, Shukla AR, Pawel B, Chikwava KR, Santi M, Tooke L, Castagna K, Biegel JA, Bagatell R.

Cancer Genet. 2014 Sep;207(9):415-9. doi: 10.1016/j.cancergen.2014.05.007. Epub 2014 May 21.

PMID:
25018128
38.

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.

Oshrine BR, Olsen MN, Heneghan M, Wertheim G, Daber R, Wilmoth DM, Biegel JA, Pawel B, Aplenc R, King RL.

Cancer Genet. 2014 Apr;207(4):153-9. doi: 10.1016/j.cancergen.2014.03.009. Epub 2014 Apr 5.

PMID:
24831771
39.

Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors.

Roth JJ, Santi M, Rorke-Adams LB, Harding BN, Busse TM, Tooke LS, Biegel JA.

Cancer Genet. 2014 Apr;207(4):111-23. doi: 10.1016/j.cancergen.2014.03.002. Epub 2014 Mar 15.

40.

Proximal-type Epithelioid Sarcoma of the Head and Neck (HN): A Study with Immunohistochemical and Molecular Analysis of SMARCB1.

Frank R, Sadri N, Bhatti T, Biegel JA, Livolsi VA, Zhang PJ.

J Clin Exp Oncol. 2013;2(2). pii: 1000106.

41.

CLL/SLL diagnosed in an adolescent.

Luskin M, Wertheim G, Morrissette J, Daber R, Biegel J, Wilmoth D, Kersun L, King R, Paessler M, Simon C, Aplenc R, Loren A.

Pediatr Blood Cancer. 2014 Jun;61(6):1107-10. doi: 10.1002/pbc.24884. Epub 2013 Nov 26.

PMID:
24281971
42.

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

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.

Br J Haematol. 2014 Jan;164(1):73-82. doi: 10.1111/bjh.12603. Epub 2013 Oct 14.

43.

Common polymorphic deletion of glutathione S-transferase theta predisposes to acquired aplastic anemia: Independent cohort and meta-analysis of 609 patients.

Babushok DV, Li Y, Roth JJ, Perdigones N, Cockroft JD, Biegel JA, Mason PJ, Bessler M.

Am J Hematol. 2013 Oct;88(10):862-7. doi: 10.1002/ajh.23521. Epub 2013 Jul 23.

44.

Mutational heterogeneity in cancer and the search for new cancer-associated genes.

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.

Nature. 2013 Jul 11;499(7457):214-218. doi: 10.1038/nature12213. Epub 2013 Jun 16.

45.

Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.

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.

Am J Med Genet A. 2013 May;161A(5):993-1001. doi: 10.1002/ajmg.a.35831. Epub 2013 Mar 26.

46.

Cribriform neuroepithelial tumor arising in the lateral ventricle.

Arnold MA, Stallings-Archer K, Marlin E, Grondin R, Olshefski R, Biegel JA, Pierson CR.

Pediatr Dev Pathol. 2013 Jul-Aug;16(4):301-7. doi: 10.2350/12-12-1287-CR.1. Epub 2013 Mar 15.

PMID:
23495723
47.

Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions.

Sullivan LM, Folpe AL, Pawel BR, Judkins AR, Biegel JA.

Mod Pathol. 2013 Mar;26(3):385-92. doi: 10.1038/modpathol.2012.175. Epub 2012 Oct 12.

48.

Absence of oncogenic canonical pathway mutations in aggressive pediatric rhabdoid tumors.

Kieran MW, Roberts CW, Chi SN, Ligon KL, Rich BE, Macconaill LE, Garraway LA, Biegel JA.

Pediatr Blood Cancer. 2012 Dec 15;59(7):1155-7. doi: 10.1002/pbc.24315. Epub 2012 Sep 19.

49.

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

Parikh S, Perdigones N, Paessler M, Greenbaum B, Tooke LS, Biegel JA, Mason PJ, Bessler M.

Br J Haematol. 2012 Nov;159(4):480-2. doi: 10.1111/bjh.12032. Epub 2012 Aug 31. No abstract available.

50.

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers.

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.

J Clin Invest. 2012 Aug;122(8):2983-8. doi: 10.1172/JCI64400. Epub 2012 Jul 17.

Supplemental Content

Loading ...
Support Center