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Page 1
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.
Ju YS, Martincorena I, Gerstung M, Petljak M, Alexandrov LB, Rahbari R, Wedge DC, Davies HR, Ramakrishna M, Fullam A, Martin S, Alder C, Patel N, Gamble S, O'Meara S, Giri DD, Sauer T, Pinder SE, Purdie CA, Borg Å, Stunnenberg H, van de Vijver M, Tan BK, Caldas C, Tutt A, Ueno NT, van 't Veer LJ, Martens JW, Sotiriou C, Knappskog S, Span PN, Lakhani SR, Eyfjörd JE, Børresen-Dale AL, Richardson A, Thompson AM, Viari A, Hurles ME, Nik-Zainal S, Campbell PJ, Stratton MR. Ju YS, et al. Among authors: rahbari r. Nature. 2017 Mar 30;543(7647):714-718. doi: 10.1038/nature21703. Epub 2017 Mar 22. Nature. 2017. PMID: 28329761 Free PMC article.
Detection of structural mosaicism from targeted and whole-genome sequencing data.
King DA, Sifrim A, Fitzgerald TW, Rahbari R, Hobson E, Homfray T, Mansour S, Mehta SG, Shehla M, Tomkins SE, Vasudevan PC, Hurles ME; Deciphering Developmental Disorders Study. King DA, et al. Among authors: rahbari r. Genome Res. 2017 Oct;27(10):1704-1714. doi: 10.1101/gr.212373.116. Epub 2017 Aug 30. Genome Res. 2017. PMID: 28855261 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
The mutational landscape of normal human endometrial epithelium.
Moore L, Leongamornlert D, Coorens THH, Sanders MA, Ellis P, Dentro SC, Dawson KJ, Butler T, Rahbari R, Mitchell TJ, Maura F, Nangalia J, Tarpey PS, Brunner SF, Lee-Six H, Hooks Y, Moody S, Mahbubani KT, Jimenez-Linan M, Brosens JJ, Iacobuzio-Donahue CA, Martincorena I, Saeb-Parsy K, Campbell PJ, Stratton MR. Moore L, et al. Among authors: rahbari r. Nature. 2020 Apr;580(7805):640-646. doi: 10.1038/s41586-020-2214-z. Epub 2020 Apr 22. Nature. 2020. PMID: 32350471
Meiosis and beyond - understanding the mechanistic and evolutionary processes shaping the germline genome.
Bergero R, Ellis P, Haerty W, Larcombe L, Macaulay I, Mehta T, Mogensen M, Murray D, Nash W, Neale MJ, O'Connor R, Ottolini C, Peel N, Ramsey L, Skinner B, Suh A, Summers M, Sun Y, Tidy A, Rahbari R, Rathje C, Immler S. Bergero R, et al. Among authors: rahbari r. Biol Rev Camb Philos Soc. 2021 Jun;96(3):822-841. doi: 10.1111/brv.12680. Epub 2021 Jan 1. Biol Rev Camb Philos Soc. 2021. PMID: 33615674 Free PMC article. Review.
Inherent mosaicism and extensive mutation of human placentas.
Coorens THH, Oliver TRW, Sanghvi R, Sovio U, Cook E, Vento-Tormo R, Haniffa M, Young MD, Rahbari R, Sebire N, Campbell PJ, Charnock-Jones DS, Smith GCS, Behjati S. Coorens THH, et al. Among authors: rahbari r. Nature. 2021 Apr;592(7852):80-85. doi: 10.1038/s41586-021-03345-1. Epub 2021 Mar 10. Nature. 2021. PMID: 33692543 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. Among authors: rahbari r. Nature. 2021 May;593(7859):405-410. doi: 10.1038/s41586-021-03477-4. Epub 2021 Apr 28. Nature. 2021. PMID: 33911282 Free article.
71 results