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Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design.
Cell Rep. 2019 Nov 5;29(6):1675-1689.e9. doi: 10.1016/j.celrep.2019.09.071.
Cell Rep. 2019.
PMID: 31693904
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.
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.
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svpluscnv: analysis and visualization of complex structural variation data.
Lopez G, Egolf LE, Giorgi FM, Diskin SJ, Margolin AA.
Lopez G, et al. Among authors: egolf le.
Bioinformatics. 2021 Jul 27;37(13):1912-1914. doi: 10.1093/bioinformatics/btaa878.
Bioinformatics. 2021.
PMID: 33051644
Free PMC article.
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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: egolf le.
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.
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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: egolf le.
J Natl Cancer Inst. 2024 Jan 10;116(1):138-148. doi: 10.1093/jnci/djad182.
J Natl Cancer Inst. 2024.
PMID: 37688570
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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. Among authors: egolf le.
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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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: egolf le.
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.
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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. Among authors: egolf le.
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.
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