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A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma.
Chiang J, Moreira DC, Pytel NJ, Liu YC, Blackburn PR, Shi Z, Cardenas M, Wheeler DA, Furtado LV. Chiang J, et al. Among authors: blackburn pr. Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12815. doi: 10.1111/nan.12815. Epub 2022 Mar 30. Neuropathol Appl Neurobiol. 2022. PMID: 35320876 Free PMC article.
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. Borroto MC, et al. Among authors: blackburn pr. Genes (Basel). 2024 Aug 6;15(8):1033. doi: 10.3390/genes15081033. Genes (Basel). 2024. PMID: 39202393 Free PMC article.
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. 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: blackburn pr. Genes Chromosomes Cancer. 2021 Feb;60(2):108-111. doi: 10.1002/gcc.22902. Epub 2020 Oct 21. Genes Chromosomes Cancer. 2021. PMID: 33078871
SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA.
Balan J, Jenkinson G, Nair A, Saha N, Koganti T, Voss J, Zysk C, Barr Fritcher EG, Ross CA, Giannini C, Raghunathan A, Kipp BR, Jenkins R, Ida C, Halling KC, Blackburn PR, Dasari S, Oliver GR, Klee EW. Balan J, et al. Among authors: blackburn pr. Front Genet. 2021 Oct 22;12:739054. doi: 10.3389/fgene.2021.739054. eCollection 2021. Front Genet. 2021. PMID: 34745213 Free PMC article.
Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.
Gagnon MF, Smadbeck JB, Sharma N, Blackburn PR, Demasi Benevides J, Akkari YMN, Jaroscak JJ, Znoyko I, Wolff DJ, Schandl CA, Meyer R, Greipp PT, Xu X, Hoppman NL, Ketterling RP, Peterson JF, Baughn LB. Gagnon MF, et al. Among authors: blackburn pr. Leuk Lymphoma. 2022 Sep;63(9):2243-2246. doi: 10.1080/10428194.2022.2064991. Epub 2022 May 4. Leuk Lymphoma. 2022. PMID: 35506873 No abstract available.
91 results