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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Somatic mutation landscapes at single-molecule resolution.
Abascal F, Harvey LMR, Mitchell E, Lawson ARJ, Lensing SV, Ellis P, Russell AJC, Alcantara RE, Baez-Ortega A, Wang Y, Kwa EJ, Lee-Six H, Cagan A, Coorens THH, Chapman MS, Olafsson S, Leonard S, Jones D, Machado HE, Davies M, Øbro NF, Mahubani KT, Allinson K, Gerstung M, Saeb-Parsy K, Kent DG, Laurenti E, Stratton MR, Rahbari R, Campbell PJ, Osborne RJ, Martincorena I. Abascal F, et al. Nature. 2021 May;593(7859):405-410. doi: 10.1038/s41586-021-03477-4. Epub 2021 Apr 28. Nature. 2021. PMID: 33911282 Free article.
Universal Patterns of Selection in Cancer and Somatic Tissues.
Martincorena I, Raine KM, Gerstung M, Dawson KJ, Haase K, Van Loo P, Davies H, Stratton MR, Campbell PJ. Martincorena I, et al. Cell. 2017 Nov 16;171(5):1029-1041.e21. doi: 10.1016/j.cell.2017.09.042. Epub 2017 Oct 19. Cell. 2017. PMID: 29056346 Free PMC article.
Somatic mutant clones colonize the human esophagus with age.
Martincorena I, Fowler JC, Wabik A, Lawson ARJ, Abascal F, Hall MWJ, Cagan A, Murai K, Mahbubani K, Stratton MR, Fitzgerald RC, Handford PA, Campbell PJ, Saeb-Parsy K, Jones PH. Martincorena I, et al. Science. 2018 Nov 23;362(6417):911-917. doi: 10.1126/science.aau3879. Epub 2018 Oct 18. Science. 2018. PMID: 30337457 Free PMC article.
Genomic Evolution of Breast Cancer Metastasis and Relapse.
Yates LR, Knappskog S, Wedge D, Farmery JHR, Gonzalez S, Martincorena I, Alexandrov LB, Van Loo P, Haugland HK, Lilleng PK, Gundem G, Gerstung M, Pappaemmanuil E, Gazinska P, Bhosle SG, Jones D, Raine K, Mudie L, Latimer C, Sawyer E, Desmedt C, Sotiriou C, Stratton MR, Sieuwerts AM, Lynch AG, Martens JW, Richardson AL, Tutt A, Lønning PE, Campbell PJ. Yates LR, et al. Cancer Cell. 2017 Aug 14;32(2):169-184.e7. doi: 10.1016/j.ccell.2017.07.005. Cancer Cell. 2017. PMID: 28810143 Free PMC article.
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S, McIntyre RE, Coorens T, Butler T, Jung H, Robinson PS, Lee-Six H, Sanders MA, Arestang K, Dawson C, Tripathi M, Strongili K, Hooks Y, Stratton MR, Parkes M, Martincorena I, Raine T, Campbell PJ, Anderson CA. Olafsson S, et al. Cell. 2020 Aug 6;182(3):672-684.e11. doi: 10.1016/j.cell.2020.06.036. Epub 2020 Jul 21. Cell. 2020. PMID: 32697969 Free PMC article.
Somatic mutation rates scale with lifespan across mammals.
Cagan A, Baez-Ortega A, Brzozowska N, Abascal F, Coorens THH, Sanders MA, Lawson ARJ, Harvey LMR, Bhosle S, Jones D, Alcantara RE, Butler TM, Hooks Y, Roberts K, Anderson E, Lunn S, Flach E, Spiro S, Januszczak I, Wrigglesworth E, Jenkins H, Dallas T, Masters N, Perkins MW, Deaville R, Druce M, Bogeska R, Milsom MD, Neumann B, Gorman F, Constantino-Casas F, Peachey L, Bochynska D, Smith ESJ, Gerstung M, Campbell PJ, Murchison EP, Stratton MR, Martincorena I. Cagan A, et al. Nature. 2022 Apr;604(7906):517-524. doi: 10.1038/s41586-022-04618-z. Epub 2022 Apr 13. Nature. 2022. PMID: 35418684 Free PMC article.
Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes.
Dentro SC, Leshchiner I, Haase K, Tarabichi M, Wintersinger J, Deshwar AG, Yu K, Rubanova Y, Macintyre G, Demeulemeester J, Vázquez-García I, Kleinheinz K, Livitz DG, Malikic S, Donmez N, Sengupta S, Anur P, Jolly C, Cmero M, Rosebrock D, Schumacher SE, Fan Y, Fittall M, Drews RM, Yao X, Watkins TBK, Lee J, Schlesner M, Zhu H, Adams DJ, McGranahan N, Swanton C, Getz G, Boutros PC, Imielinski M, Beroukhim R, Sahinalp SC, Ji Y, Peifer M, Martincorena I, Markowetz F, Mustonen V, Yuan K, Gerstung M, Spellman PT, Wang W, Morris QD, Wedge DC, Van Loo P; PCAWG Evolution and Heterogeneity Working Group and the PCAWG Consortium. Dentro SC, et al. Cell. 2021 Apr 15;184(8):2239-2254.e39. doi: 10.1016/j.cell.2021.03.009. Epub 2021 Apr 7. Cell. 2021. PMID: 33831375 Free PMC article.
Extensive heterogeneity in somatic mutation and selection in the human bladder.
Lawson ARJ, Abascal F, Coorens THH, Hooks Y, O'Neill L, Latimer C, Raine K, Sanders MA, Warren AY, Mahbubani KTA, Bareham B, Butler TM, Harvey LMR, Cagan A, Menzies A, Moore L, Colquhoun AJ, Turner W, Thomas B, Gnanapragasam V, Williams N, Rassl DM, Vöhringer H, Zumalave S, Nangalia J, Tubío JMC, Gerstung M, Saeb-Parsy K, Stratton MR, Campbell PJ, Mitchell TJ, Martincorena I. Lawson ARJ, et al. Science. 2020 Oct 2;370(6512):75-82. doi: 10.1126/science.aba8347. Science. 2020. PMID: 33004514
Comprehensive molecular characterization of mitochondrial genomes in human cancers.
Yuan Y, Ju YS, Kim Y, Li J, Wang Y, Yoon CJ, Yang Y, Martincorena I, Creighton CJ, Weinstein JN, Xu Y, Han L, Kim HL, Nakagawa H, Park K, Campbell PJ, Liang H; PCAWG Consortium. Yuan Y, et al. Nat Genet. 2020 Mar;52(3):342-352. doi: 10.1038/s41588-019-0557-x. Epub 2020 Feb 5. Nat Genet. 2020. PMID: 32024997 Free PMC article.
73 results