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OpenPBTA: The Open Pediatric Brain Tumor Atlas.
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.
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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Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design.
Rokita JL, Rathi KS, Cardenas MF, Upton KA, Jayaseelan J, Cross KL, Pfeil J, Egolf LE, Way GP, Farrel A, Kendsersky NM, Patel K, Gaonkar KS, Modi A, Berko ER, Lopez G, Vaksman Z, Mayoh C, Nance J, McCoy K, Haber M, Evans K, McCalmont H, Bendak K, Böhm JW, Marshall GM, Tyrrell V, Kalletla K, Braun FK, Qi L, Du Y, Zhang H, Lindsay HB, Zhao S, Shu J, Baxter P, Morton C, Kurmashev D, Zheng S, Chen Y, Bowen J, Bryan AC, Leraas KM, Coppens SE, Doddapaneni H, Momin Z, Zhang W, Sacks GI, Hart LS, Krytska K, Mosse YP, Gatto GJ, Sanchez Y, Greene CS, Diskin SJ, Vaske OM, Haussler D, Gastier-Foster JM, Kolb EA, Gorlick R, Li XN, Reynolds CP, Kurmasheva RT, Houghton PJ, Smith MA, Lock RB, Raman P, Wheeler DA, Maris JM.
Rokita JL, et al. Among authors: egolf le.
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.
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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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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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