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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.
An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia.
Phan M, Gomes MA, Stinnett V, Morsberger L, Hoppman NL, Pearce KE, Smith K, Phan B, Jiang L, Zou YS. Phan M, et al. Among authors: hoppman nl. Biomedicines. 2024 Mar 7;12(3):598. doi: 10.3390/biomedicines12030598. Biomedicines. 2024. PMID: 38540211 Free PMC article.
Characterization of a cryptic PML-RARA fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative RARA FISH studies.
Schultz MJ, Blackburn PR, Cogbill CH, Pitel BA, Smadbeck JB, Johnson SH, Vasmatzis G, Rech KL, Sukov WR, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP, Peterson JF. Schultz MJ, et al. Among authors: hoppman nl. Leuk Lymphoma. 2020 Apr;61(4):975-978. doi: 10.1080/10428194.2019.1699081. Epub 2019 Dec 6. Leuk Lymphoma. 2020. PMID: 31809670 No abstract available.
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
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: hoppman nl. Genes Chromosomes Cancer. 2020 Jul;59(7):422-427. doi: 10.1002/gcc.22842. Epub 2020 Mar 26. Genes Chromosomes Cancer. 2020. PMID: 32196814
Identification of a novel KMT2A/GIMAP8 gene fusion in a pediatric patient with acute undifferentiated leukemia.
Berg HE, Blackburn PR, Baughn LB, Ketterling RP, Xu X, Greipp PT, Hoppman NL, Smadbeck JB, Vasmatzis G, Shi M, Reichard KK, Viswanatha DS, Jevremovic D, Maher GM, Peterson JF. Berg HE, et al. Among authors: hoppman nl. Genes Chromosomes Cancer. 2021 Feb;60(2):108-111. doi: 10.1002/gcc.22902. Epub 2020 Oct 21. Genes Chromosomes Cancer. 2021. PMID: 33078871
73 results