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Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K, Ward JC, Soriano I, Martin L, Campbell A, Rahbari R, Kafetzopoulos I, Sproul D, Green A, Sampson JR, Donaldson A, Ong KR, Heinimann K, Nielsen M, Thomas H, Latchford A, Palles C, Tomlinson I. Sherwood K, et al. Among authors: rahbari r. Nat Commun. 2023 Jun 28;14(1):3836. doi: 10.1038/s41467-023-39587-y. Nat Commun. 2023. PMID: 37380644 Free PMC article. No abstract available.
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.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.
Robinson PS, Coorens THH, Palles C, Mitchell E, Abascal F, Olafsson S, Lee BCH, Lawson ARJ, Lee-Six H, Moore L, Sanders MA, Hewinson J, Martin L, Pinna CMA, Galavotti S, Rahbari R, Campbell PJ, Martincorena I, Tomlinson I, Stratton MR. Robinson PS, et al. Among authors: rahbari r. Nat Genet. 2021 Oct;53(10):1434-1442. doi: 10.1038/s41588-021-00930-y. Epub 2021 Sep 30. Nat Genet. 2021. PMID: 34594041 Free PMC article.
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K, Ward JC, Soriano I, Martin L, Campbell A, Rahbari R, Kafetzopoulos I, Sproul D, Green A, Sampson JR, Donaldson A, Ong KR, Heinimann K, Nielsen M, Thomas H, Latchford A, Palles C, Tomlinson I. Sherwood K, et al. Among authors: rahbari r. Nat Commun. 2023 Jun 19;14(1):3636. doi: 10.1038/s41467-023-39248-0. Nat Commun. 2023. PMID: 37336879 Free PMC article.
The mutational landscape of human somatic and germline cells.
Moore L, Cagan A, Coorens THH, Neville MDC, Sanghvi R, Sanders MA, Oliver TRW, Leongamornlert D, Ellis P, Noorani A, Mitchell TJ, Butler TM, Hooks Y, Warren AY, Jorgensen M, Dawson KJ, Menzies A, O'Neill L, Latimer C, Teng M, van Boxtel R, Iacobuzio-Donahue CA, Martincorena I, Heer R, Campbell PJ, Fitzgerald RC, Stratton MR, Rahbari R. Moore L, et al. Among authors: rahbari r. Nature. 2021 Sep;597(7876):381-386. doi: 10.1038/s41586-021-03822-7. Epub 2021 Aug 25. Nature. 2021. PMID: 34433962
Extensive phylogenies of human development inferred from somatic mutations.
Coorens THH, Moore L, Robinson PS, Sanghvi R, Christopher J, Hewinson J, Przybilla MJ, Lawson ARJ, Spencer Chapman M, Cagan A, Oliver TRW, Neville MDC, Hooks Y, Noorani A, Mitchell TJ, Fitzgerald RC, Campbell PJ, Martincorena I, Rahbari R, Stratton MR. Coorens THH, et al. Among authors: rahbari r. Nature. 2021 Sep;597(7876):387-392. doi: 10.1038/s41586-021-03790-y. Epub 2021 Aug 25. Nature. 2021. PMID: 34433963
Convergent somatic mutations in metabolism genes in chronic liver disease.
Ng SWK, Rouhani FJ, Brunner SF, Brzozowska N, Aitken SJ, Yang M, Abascal F, Moore L, Nikitopoulou E, Chappell L, Leongamornlert D, Ivovic A, Robinson P, Butler T, Sanders MA, Williams N, Coorens THH, Teague J, Raine K, Butler AP, Hooks Y, Wilson B, Birtchnell N, Naylor H, Davies SE, Stratton MR, Martincorena I, Rahbari R, Frezza C, Hoare M, Campbell PJ. Ng SWK, et al. Among authors: rahbari r. Nature. 2021 Oct;598(7881):473-478. doi: 10.1038/s41586-021-03974-6. Epub 2021 Oct 13. Nature. 2021. PMID: 34646017
70 results