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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.
Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A. Rickman KA, et al. Among authors: kennedy ja. Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25. Cell Rep. 2015. PMID: 26119737 Free PMC article.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Among authors: kennedy ja. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 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. 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.
Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors.
Walsh MF, Sacca R, Wildman T, Amoroso K, Kennedy J, Zhang L, Birsoy O, Mandelker D, Steinsnyder Z, Latham A, Carlo MI, Cadoo K, Kemel Y, Robson M, Stadler ZK, Offit K. Walsh MF, et al. JCO Precis Oncol. 2019 Oct 23;3:PO.19.00230. doi: 10.1200/PO.19.00230. eCollection 2019. JCO Precis Oncol. 2019. PMID: 32923861 Free PMC article. No abstract available.
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: kennedy ja. Cancer. 2020 Jul 1;126(13):3114-3121. doi: 10.1002/cncr.32907. Epub 2020 Apr 22. Cancer. 2020. PMID: 32320050 Free PMC article.
Intracardiac Low-grade Sarcoma Following Treatment for Ewing Sarcoma.
Ortiz MV, Magnan H, Slotkin EK, Ambati SR, Chou AJ, Wexler LH, Meyers PA, Walsh MF, Heaton T, Girardi LN, Wolden SL, Price AP, Kennedy JA, Zehir A, Hameed M, Berger MF, Kentsis A, Shukla N. Ortiz MV, et al. Among authors: kennedy ja. J Pediatr Hematol Oncol. 2017 Nov;39(8):e443-e445. doi: 10.1097/MPH.0000000000000754. J Pediatr Hematol Oncol. 2017. PMID: 28060130 Free PMC article.
305 results