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Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.
Stundon JL, Ijaz H, Gaonkar KS, Kaufman RS, Jin R, Karras A, Vaksman Z, Kim J, Corbett RJ, Lueder MR, Miller DP, Guo Y, Santi M, Li M, Lopez G, Storm PB, Resnick AC, Waanders AJ, MacFarland SP, Stewart DR, Diskin SJ, Rokita JL, Cole KA. Stundon JL, et al. Among authors: rokita jl. Neuro Oncol. 2023 Jul 6;25(7):1331-1342. doi: 10.1093/neuonc/noac278. Neuro Oncol. 2023. PMID: 36541551 Free PMC article.
Enhancing childhood cancer targetability.
Naqvi AS, Rokita JL. Naqvi AS, et al. Among authors: rokita jl. Nat Cancer. 2023 Feb;4(2):153-155. doi: 10.1038/s43018-022-00472-0. Nat Cancer. 2023. PMID: 36585448 No abstract available.
OpenPBTA: The Open Pediatric Brain Tumor Atlas.
Shapiro JA, Gaonkar KS, Spielman SJ, Savonen CL, Bethell CJ, Jin R, Rathi KS, Zhu Y, Egolf LE, Farrow BK, Miller DP, Yang Y, Koganti T, Noureen N, Koptyra MP, Duong N, Santi M, Kim J, Robins S, Storm PB, Mack SC, Lilly JV, Xie HM, Jain P, Raman P, Rood BR, Lulla RR, Nazarian J, Kraya AA, Vaksman Z, Heath AP, Kline C, Scolaro L, Viaene AN, Huang X, Way GP, Foltz SM, Zhang B, Poetsch AR, Mueller S, Ennis BM, Prados M, Diskin SJ, Zheng S, Guo Y, Kannan S, Waanders AJ, Margol AS, Kim MC, Hanson D, Van Kuren N, Wong J, Kaufman RS, Coleman N, Blackden C, Cole KA, Mason JL, Madsen PJ, Koschmann CJ, Stewart DR, Wafula E, Brown MA, Resnick AC, Greene CS, Rokita JL, Taroni JN; Children’s Brain Tumor Network; Pacific Pediatric Neuro-Oncology Consortium. Shapiro JA, et al. Among authors: rokita jl. Cell Genom. 2023 May 31;3(7):100340. doi: 10.1016/j.xgen.2023.100340. eCollection 2023 Jul 12. Cell Genom. 2023. PMID: 37492101 Free PMC article.
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.
Egolf LE, Vaksman Z, Lopez G, Rokita JL, Modi A, Basta PV, Hakonarson H, Olshan AF, Diskin SJ. Egolf LE, et al. Among authors: rokita jl. Am J Hum Genet. 2019 Sep 5;105(3):658-668. doi: 10.1016/j.ajhg.2019.07.020. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474320 Free PMC article.
Pediatric high-grade glioma resources from the Children's Brain Tumor Tissue Consortium.
Ijaz H, Koptyra M, Gaonkar KS, Rokita JL, Baubet VP, Tauhid L, Zhu Y, Brown M, Lopez G, Zhang B, Diskin SJ, Vaksman Z; Children’s Brain Tumor Tissue Consortium; Mason JL, Appert E, Lilly J, Lulla R, De Raedt T, Heath AP, Felmeister A, Raman P, Nazarian J, Santi MR, Storm PB, Resnick A, Waanders AJ, Cole KA. Ijaz H, et al. Among authors: rokita jl. Neuro Oncol. 2020 Jan 11;22(1):163-165. doi: 10.1093/neuonc/noz192. Neuro Oncol. 2020. PMID: 31613963 Free PMC article. No abstract available.
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.
Randall MP, Egolf LE, Vaksman Z, Samanta M, Tsang M, Groff D, Evans JP, Rokita JL, Layeghifard M, Shlien A, Maris JM, Diskin SJ, Bosse KR. Randall MP, et al. Among authors: rokita jl. bioRxiv [Preprint]. 2023 Feb 3:2023.01.31.525066. doi: 10.1101/2023.01.31.525066. bioRxiv. 2023. PMID: 36778420 Free PMC article. Updated. Preprint.
31 results