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183 results

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Page 1
Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
Ichikawa S, Prockop S, Cunningham-Rundles C, Sifers T, Conner BR, Wu S, Karam R, Walsh MF, Fiala E. Ichikawa S, et al. Among authors: walsh mf. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005017. doi: 10.1101/mcs.a005017. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532877 Free PMC article.
Germline SDHA mutations in children and adults with cancer.
Dubard Gault M, Mandelker D, DeLair D, Stewart CR, Kemel Y, Sheehan MR, Siegel B, Kennedy J, Marcell V, Arnold A, Al-Ahmadie H, Modak S, Robson M, Shukla N, Roberts S, Vijai J, Topka S, Kentsis A, Cadoo K, Carlo M, Latham Schwark A, Reznik E, Dinatale R, Hechtman J, Borras Flores E, Jairam S, Yang C, Li Y, Bayraktar EC, Ceyhan-Birsoy O, Zhang L, Kohlman W, Schiffman J, Stadler Z, Birsoy K, Kung A, Offit K, Walsh MF. Dubard Gault M, et al. Among authors: walsh mf. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002584. doi: 10.1101/mcs.a002584. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 30068732 Free PMC article.
11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
Fiala EM, Ortiz MV, Kennedy JA, Glodzik D, Fleischut MH, Duffy KA, Hathaway ER, Heaton T, Gerstle JT, Steinherz P, Shukla N, McNeer N, Tkachuk K, Bouvier N, Cadoo K, Carlo MI, Latham A, Dubard Gault M, Joseph V, Kemel Y, Kentsis A, Stadler Z, La Quaglia M, Papaemmanuil E, Friedman D, Ganguly A, Kung A, Offit K, Kalish JM, Walsh MF. Fiala EM, et al. Among authors: walsh mf. Cancer. 2020 Jul 1;126(13):3114-3121. doi: 10.1002/cncr.32907. Epub 2020 Apr 22. Cancer. 2020. PMID: 32320050 Free PMC article.
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF. Fiala EM, et al. Among authors: walsh mf. Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15. Nat Cancer. 2021. PMID: 34308366 Free PMC article.
Multiple Primary Cancers in Patients Undergoing Tumor-Normal Sequencing Define Novel Associations.
Liu YL, Cadoo KA, Mukherjee S, Khurram A, Tkachuk K, Kemel Y, Maio A, Belhadj S, Carlo MI, Latham A, Walsh MF, Dubard-Gault ME, Wang Y, Brannon AR, Salo-Mullen E, Sheehan M, Fiala E, Devolder B, Dandiker S, Mandelker D, Zehir A, Ladanyi M, Berger MF, Solit DB, Bandlamudi C, Ravichandran V, Bajorin DF, Stadler ZK, Robson ME, Vijai J, Seshan V, Offit K. Liu YL, et al. Among authors: walsh mf. Cancer Epidemiol Biomarkers Prev. 2022 Feb;31(2):362-371. doi: 10.1158/1055-9965.EPI-21-0820. Epub 2021 Nov 22. Cancer Epidemiol Biomarkers Prev. 2022. PMID: 34810208 Free PMC article.
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.
Terraf P, Pareja F, Brown DN, Ceyhan-Birsoy O, Misyura M, Rana S, O'Reilly E, Carlo MI, Aghajanian C, Liu Y, Derakhshan F, Jayakumaran G, Weigelt B, Walsh M, Stadler Z, Offit K, Ladanyi M, Robson M, Zehir A, Reis-Filho JS, Mandelker D. Terraf P, et al. Ann Oncol. 2022 Apr;33(4):426-433. doi: 10.1016/j.annonc.2022.01.006. Epub 2022 Jan 21. Ann Oncol. 2022. PMID: 35074424 Free PMC article.
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N, Levine MF, Gundem G, Domenico D, Spitzer B, Bouvier N, Arango-Ossa JE, Glodzik D, Medina-Martínez JS, Bhanot U, Gutiérrez-Abril J, Zhou Y, Fiala E, Stockfisch E, Li S, Rodriguez-Sanchez MI, O'Donohue T, Cobbs C, Roehrl MHA, Benhamida J, Iglesias Cardenas F, Ortiz M, Kinnaman M, Roberts S, Ladanyi M, Modak S, Farouk-Sait S, Slotkin E, Karajannis MA, Dela Cruz F, Glade Bender J, Zehir A, Viale A, Walsh MF, Kung AL, Papaemmanuil E. Shukla N, et al. Among authors: walsh mf. Nat Commun. 2022 May 18;13(1):2485. doi: 10.1038/s41467-022-30233-7. Nat Commun. 2022. PMID: 35585047 Free PMC article.
Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation.
Chen S, Vedula RS, Cuevas-Navarro A, Lu B, Hogg SJ, Wang E, Benbarche S, Knorr K, Kim WJ, Stanley RF, Cho H, Erickson C, Singer M, Cui D, Tittley S, Durham BH, Pavletich TS, Fiala E, Walsh MF, Inoue D, Monette S, Taylor J, Rosen N, McCormick F, Lindsley RC, Castel P, Abdel-Wahab O. Chen S, et al. Among authors: walsh mf. Cancer Discov. 2022 Oct 5;12(10):2434-2453. doi: 10.1158/2159-8290.CD-21-1631. Cancer Discov. 2022. PMID: 35904492 Free PMC article.
183 results