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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.
Walker R, Mahmood K, Joo JE, Clendenning M, Georgeson P, Como J, Joseland S, Preston SG, Antill Y, Austin R, Boussioutas A, Bowman M, Burke J, Campbell A, Daneshvar S, Edwards E, Gleeson M, Goodwin A, Harris MT, Henderson A, Higgins M, Hopper JL, Hutchinson RA, Ip E, Isbister J, Kasem K, Marfan H, Milnes D, Ng A, Nichols C, O'Connell S, Pachter N, Pope BJ, Poplawski N, Ragunathan A, Smyth C, Spigelman A, Storey K, Susman R, Taylor JA, Warwick L, Wilding M, Williams R, Win AK, Walsh MD, Macrae FA, Jenkins MA, Rosty C, Winship IM, Buchanan DD; Family Cancer Clinics of Australia. Walker R, et al. Among authors: spigelman a. medRxiv [Preprint]. 2023 Mar 1:2023.02.27.23285541. doi: 10.1101/2023.02.27.23285541. medRxiv. 2023. Update in: J Transl Med. 2023 Apr 26;21(1):282. doi: 10.1186/s12967-023-04143-1 PMID: 36909643 Free PMC article. Updated. Preprint.
Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators; Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS. Li A, et al. NPJ Breast Cancer. 2019 Nov 19;5:44. doi: 10.1038/s41523-019-0140-8. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31754629 Free PMC article.
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Bancroft EK, Page EC, Brook MN, Pope J, Thomas S, Myhill K, Helfand BT, Talaty P, Ong KR, Douglas E, Cook J, Rosario DJ, Salinas M, Buys SS, Anson J, Davidson R, Longmuir M, Side L, Eccles DM, Tischkowitz M, Taylor A, Cruellas M, Ballestero EP, Cleaver R, Varughese M, Barwell J, LeButt M, Greenhalgh L, Hart R, Azzabi A, Jobson I, Cogley L, Evans DG, Rothwell J, Taylor N, Hogben M, Saya S; IMPACT Study Steering Committee; IMPACT Collaborators; Eeles RA, Aaronson NK. Bancroft EK, et al. BJU Int. 2024 Sep;134(3):484-500. doi: 10.1111/bju.16432. Epub 2024 Jun 5. BJU Int. 2024. PMID: 38839570
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.
Walker R, Joo JE, Mahmood K, Clendenning M, Como J, Preston SG, Joseland S, Pope BJ, Medeiros ABD, Murillo BV, Pachter N, Sweet K, Spigelman AD, Groves A, Gleeson M, Bernatowicz K, Poplawski N, Andrews L, Healey E, Gallinger S, Grant RC, Win AK, Hopper JL, Jenkins MA, Torrezan GT, Rosty C, Macrae FA, Winship IM, Buchanan DD, Georgeson P. Walker R, et al. Among authors: spigelman ad. medRxiv [Preprint]. 2024 Aug 9:2024.08.08.24311713. doi: 10.1101/2024.08.08.24311713. medRxiv. 2024. PMID: 39148833 Free PMC article. Preprint.
HumanIslets.com: Improving accessibility, integration, and usability of human research islet data.
Ewald JD, Lu Y, Ellis CE, Worton J, Kolic J, Sasaki S, Zhang D, Dos Santos T, Spigelman AF, Bautista A, Dai XQ, Lyon JG, Smith NP, Wong JM, Rajesh V, Sun H, Sharp SA, Rogalski JC, Moravcova R, Cen HH, Manning Fox JE; HumanIslets.com Consortium; Atlas E, Bruin JE, Mulvihill EE, Verchere CB, Foster LJ, Gloyn AL, Johnson JD, Pepper AR, Lynn FC, Xia J, MacDonald PE. Ewald JD, et al. Among authors: spigelman af. Cell Metab. 2024 Sep 24:S1550-4131(24)00365-6. doi: 10.1016/j.cmet.2024.09.001. Online ahead of print. Cell Metab. 2024. PMID: 39357523
Proteomic predictors of individualized nutrient-specific insulin secretion in health and disease.
Kolic J, Sun WG, Cen HH, Ewald JD, Rogalski JC, Sasaki S, Sun H, Rajesh V, Xia YH, Moravcova R, Skovsø S, Spigelman AF, Manning Fox JE, Lyon J, Beet L, Xia J, Lynn FC, Gloyn AL, Foster LJ, MacDonald PE, Johnson JD. Kolic J, et al. Among authors: spigelman af. Cell Metab. 2024 Jul 2;36(7):1619-1633.e5. doi: 10.1016/j.cmet.2024.06.001. Cell Metab. 2024. PMID: 38959864 Free PMC article.
287 results