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Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. Tester DJ, et al. Among authors: pitel ba. JAMA Cardiol. 2020 Mar 1;5(3):13-18. doi: 10.1001/jamacardio.2019.5400. JAMA Cardiol. 2020. PMID: 31913406 Free PMC article.
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
Aypar U, Smoley SA, Pitel BA, Pearce KE, Zenka RM, Vasmatzis G, Johnson SH, Smadbeck JB, Peterson JF, Geiersbach KB, Van Dyke DL, Thorland EC, Jenkins RB, Ketterling RP, Greipp PT, Kearney HM, Hoppman NL, Baughn LB. Aypar U, et al. Among authors: pitel ba. Eur J Haematol. 2019 Jan;102(1):87-96. doi: 10.1111/ejh.13179. Epub 2018 Nov 22. Eur J Haematol. 2019. PMID: 30270457 Free PMC article.
RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst.
Blackburn PR, Davila JI, Jackson RA, Fadra N, Atiq MA, Pitel BA, Nair AA, VanDeWalker TJ, Hessler MG, Hovel SK, Wehrs RN, Fritchie KJ, Jenkins RB, Halling KC, Geiersbach KB. Blackburn PR, et al. Among authors: pitel ba. Genes Chromosomes Cancer. 2019 Aug;58(8):589-594. doi: 10.1002/gcc.22742. Epub 2019 Mar 6. Genes Chromosomes Cancer. 2019. PMID: 30767316
Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia.
Blackburn PR, Smadbeck JB, Znoyko I, Webley MR, Pitel BA, Vasmatzis G, Xu X, Greipp PT, Hoppman NL, Ketterling RP, Baughn LB, Lindsey KG, Schandl CA, Wolff DJ, Peterson JF. Blackburn PR, et al. Among authors: pitel ba. Genes Chromosomes Cancer. 2020 Jul;59(7):422-427. doi: 10.1002/gcc.22842. Epub 2020 Mar 26. Genes Chromosomes Cancer. 2020. PMID: 32196814
Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia.
Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Koon SJ, Webley MR, McGrath M, Bayerl MG, Baughn LB, Rowsey RA, Ketterling RP, Greipp PT, Hoppman NL. Peterson JF, et al. Among authors: pitel ba. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003533. doi: 10.1101/mcs.a003533. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30936193 Free PMC article.
SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).
Johnson SH, Smadbeck JB, Smoley SA, Gaitatzes A, Murphy SJ, Harris FR, Drucker TM, Zenka RM, Pitel BA, Rowsey RA, Hoppman NL, Aypar U, Sukov WR, Jenkins RB, Feldman AL, Kearney HM, Vasmatzis G. Johnson SH, et al. Among authors: pitel ba. Cancer Genet. 2018 Feb;221:1-18. doi: 10.1016/j.cancergen.2017.11.009. Epub 2017 Dec 2. Cancer Genet. 2018. PMID: 29405991
Cryptic ETV6-PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm.
Singh ZN, Richards S, El Chaer F, Duong VH, Gudipati MA, Waters EO, Koon S, Webley M, Pitel B, Hoppman NL, Baer MR, Zou YS. Singh ZN, et al. Leuk Lymphoma. 2019 May;60(5):1304-1307. doi: 10.1080/10428194.2018.1480774. Epub 2018 Jul 11. Leuk Lymphoma. 2019. PMID: 29992858 No abstract available.
39 results