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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: kaufman rs. Neuro Oncol. 2023 Jul 6;25(7):1331-1342. doi: 10.1093/neuonc/noac278. Neuro Oncol. 2023. PMID: 36541551 Free PMC article.
Germline pathogenic variants in 786 neuroblastoma patients.
Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani N, Dymek M, Desai H, Hausler R; Penn Medicine BioBank; Regeneron Genetics Center; Cancer Genomics Research Laboratory; Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. Kim J, et al. medRxiv [Preprint]. 2023 Jan 25:2023.01.23.23284864. doi: 10.1101/2023.01.23.23284864. medRxiv. 2023. PMID: 36747619 Free PMC article. Updated. Preprint.
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: kaufman rs. 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 pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani NL, Dymek M, Desai H, Hausler R, Hicks B, Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ. Kim J, et al. J Natl Cancer Inst. 2024 Jan 10;116(1):149-159. doi: 10.1093/jnci/djad183. J Natl Cancer Inst. 2024. PMID: 37688579
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