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71 results

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Secondary acquisition of BCR-ABL1 fusion in de novo GATA2-MECOM positive acute myeloid leukemia with subsequent emergence of a rare KMT2A-ASXL2 fusion.
Blackburn PR, Huang L, Dalovisio A, Pitel BA, Chen D, Oliveira JL, Wood AJ, Smadbeck JB, Johnson SH, Vasmatzis G, Haferlach C, Greipp PT, Hoppman NL, Ketterling RP, Baughn LB, Peterson JF. Blackburn PR, et al. Among authors: hoppman nl. Cancer Genet. 2020 Feb;241:67-71. doi: 10.1016/j.cancergen.2019.12.005. Epub 2019 Dec 26. Cancer Genet. 2020. PMID: 31902694
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: hoppman nl. Cancer Genet. 2018 Feb;221:1-18. doi: 10.1016/j.cancergen.2017.11.009. Epub 2017 Dec 2. Cancer Genet. 2018. PMID: 29405991
Copy number variant analysis using genome-wide mate-pair sequencing.
Smadbeck JB, Johnson SH, Smoley SA, Gaitatzes A, Drucker TM, Zenka RM, Kosari F, Murphy SJ, Hoppman N, Aypar U, Sukov WR, Jenkins RB, Kearney HM, Feldman AL, Vasmatzis G. Smadbeck JB, et al. Genes Chromosomes Cancer. 2018 Sep;57(9):459-470. doi: 10.1002/gcc.5. Epub 2018 Jul 30. Genes Chromosomes Cancer. 2018. PMID: 29726617 Free PMC article.
Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN. Polonis K, et al. Among authors: hoppman nl. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002899. doi: 10.1101/mcs.a002899. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 29802153 Free PMC article.
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. Among authors: hoppman nl. 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.
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: hoppman nl. 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.
Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.
Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Pearce KE, He R, Kelemen K, Al-Mondhiry HAB, Lamparella NE, Hoppman NL, Kearney HM, Baughn LB, Ketterling RP, Greipp PT. Peterson JF, et al. Among authors: hoppman nl. Cancer Genet. 2019 Jan;230:37-46. doi: 10.1016/j.cancergen.2018.11.005. Epub 2018 Nov 20. Cancer Genet. 2019. PMID: 30497985 Review.
71 results