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Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.
J Natl Cancer Inst. 2024 Jan 10;116(1):149-159. doi: 10.1093/jnci/djad183.
J Natl Cancer Inst. 2024.
PMID: 37688579
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. Among authors: auvil jg.
medRxiv [Preprint]. 2023 Jan 25:2023.01.23.23284864. doi: 10.1101/2023.01.23.23284864.
medRxiv. 2023.
Update in:
J Natl Cancer Inst. 2024 Jan 10;116(1):149-159. doi: 10.1093/jnci/djad183.
PMID: 36747619
Free PMC article.
Updated.
Preprint.
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Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma.
Lopez G, Conkrite KL, Doepner M, Rathi KS, Modi A, Vaksman Z, Farra LM, Hyson E, Noureddine M, Wei JS, Smith MA, Asgharzadeh S, Seeger RC, Khan J, Auvil JG, Gerhard DS, Maris JM, Diskin SJ.
Lopez G, et al. Among authors: auvil jg.
Genome Res. 2020 Sep;30(9):1228-1242. doi: 10.1101/gr.252106.119. Epub 2020 Aug 13.
Genome Res. 2020.
PMID: 32796005
Free PMC article.
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The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.
Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson MR, McCastlain K, Edmonson M, Pounds SB, Shi L, Zhou X, Ma X, Sioson E, Li Y, Rusch M, Gupta P, Pei D, Cheng C, Smith MA, Auvil JG, Gerhard DS, Relling MV, Winick NJ, Carroll AJ, Heerema NA, Raetz E, Devidas M, Willman CL, Harvey RC, Carroll WL, Dunsmore KP, Winter SS, Wood BL, Sorrentino BP, Downing JR, Loh ML, Hunger SP, Zhang J, Mullighan CG.
Liu Y, et al. Among authors: auvil jg.
Nat Genet. 2017 Aug;49(8):1211-1218. doi: 10.1038/ng.3909. Epub 2017 Jul 3.
Nat Genet. 2017.
PMID: 28671688
Free PMC article.
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