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Page 1
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U. Durno C, et al. Among authors: maciaszek jl. J Clin Oncol. 2021 Sep 1;39(25):2779-2790. doi: 10.1200/JCO.20.02636. Epub 2021 May 4. J Clin Oncol. 2021. PMID: 33945292 Free PMC article.
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA, Maciaszek JL, Pinto EM, Phillips AH, Berdy D, Khandwala M, Upadhyaya SA, Zambetti GP, Kriwacki RW, Ellison DW, Nichols KE, Kesserwan C. Quinn EA, et al. Among authors: maciaszek jl. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a003921. doi: 10.1101/mcs.a003921. Print 2019 Aug. Cold Spring Harb Mol Case Stud. 2019. PMID: 30886117 Free PMC article.
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL, Oak N, Chen W, Hamilton KV, McGee RB, Nuccio R, Mostafavi R, Hines-Dowell S, Harrison L, Taylor L, Gerhardt EL, Ouma A, Edmonson MN, Patel A, Nakitandwe J, Pappo AS, Azzato EM, Shurtleff SA, Ellison DW, Downing JR, Hudson MM, Robison LL, Santana V, Newman S, Zhang J, Wang Z, Wu G, Nichols KE, Kesserwan CA. Maciaszek JL, et al. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004218. doi: 10.1101/mcs.a004218. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604778 Free PMC article.
Recent advances in Wilms' tumor predisposition.
Maciaszek JL, Oak N, Nichols KE. Maciaszek JL, et al. Hum Mol Genet. 2020 Oct 20;29(R2):R138-R149. doi: 10.1093/hmg/ddaa091. Hum Mol Genet. 2020. PMID: 32412586 Review.
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S, Nakitandwe J, Kesserwan CA, Azzato EM, Wheeler DA, Rusch M, Shurtleff S, Hedges DJ, Hamilton KV, Foy SG, Edmonson MN, Thrasher A, Bahrami A, Orr BA, Klco JM, Gu J, Harrison LW, Wang L, Clay MR, Ouma A, Silkov A, Liu Y, Zhang Z, Liu Y, Brady SW, Zhou X, Chang TC, Pande M, Davis E, Becksfort J, Patel A, Wilkinson MR, Rahbarinia D, Kubal M, Maciaszek JL, Pastor V, Knight J, Gout AM, Wang J, Gu Z, Mullighan CG, McGee RB, Quinn EA, Nuccio R, Mostafavi R, Gerhardt EL, Taylor LM, Valdez JM, Hines-Dowell SJ, Pappo AS, Robinson G, Johnson LM, Pui CH, Ellison DW, Downing JR, Zhang J, Nichols KE. Newman S, et al. Among authors: maciaszek jl. Cancer Discov. 2021 Dec 1;11(12):3008-3027. doi: 10.1158/2159-8290.CD-20-1631. Cancer Discov. 2021. PMID: 34301788 Free PMC article.
SJPedPanel: A Pan-Cancer Gene Panel for Childhood Malignancies to Enhance Cancer Monitoring and Early Detection.
Kolekar P, Balagopal V, Dong L, Liu Y, Foy S, Tran Q, Mulder H, Huskey ALW, Plyler E, Liang Z, Ma J, Nakitandwe J, Gu J, Namwanje M, Maciaszek J, Payne-Turner D, Mallampati S, Wang L, Easton J, Klco JM, Ma X. Kolekar P, et al. Clin Cancer Res. 2024 Sep 13;30(18):4100-4114. doi: 10.1158/1078-0432.CCR-24-1063. Clin Cancer Res. 2024. PMID: 39047169 Free PMC article.
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Schwartz JR, Ma J, Kamens J, Westover T, Walsh MP, Brady SW, Robert Michael J, Chen X, Montefiori L, Song G, Wu G, Wu H, Branstetter C, Hiltenbrand R, Walsh MF, Nichols KE, Maciaszek JL, Liu Y, Kumar P, Easton J, Newman S, Rubnitz JE, Mullighan CG, Pounds S, Zhang J, Gruber T, Ma X, Klco JM. Schwartz JR, et al. Among authors: maciaszek jl. Nat Commun. 2021 Feb 12;12(1):985. doi: 10.1038/s41467-021-21255-8. Nat Commun. 2021. PMID: 33579957 Free PMC article.
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