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A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. Cuvertino S, et al. Among authors: garner t. Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17. Genet Med. 2020. PMID: 31949313 Free PMC article.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. Cuvertino S, et al. Among authors: garner t. Genet Med. 2020 May;22(5):980. doi: 10.1038/s41436-020-0784-7. Genet Med. 2020. PMID: 32203228 Free PMC article.
EVI1 phosphorylation at S436 regulates interactions with CtBP1 and DNMT3A and promotes self-renewal.
Paredes R, Kelly JR, Geary B, Almarzouq B, Schneider M, Pearson S, Narayanan P, Williamson A, Lovell SC, Wiseman DH, Chadwick JA, Jones NJ, Kustikova O, Schambach A, Garner T, Amaral FMR, Pierce A, Stevens A, Somervaille TCP, Whetton AD, Meyer S. Paredes R, et al. Among authors: garner t. Cell Death Dis. 2020 Oct 20;11(10):878. doi: 10.1038/s41419-020-03099-0. Cell Death Dis. 2020. PMID: 33082307 Free PMC article.
Identification of human glucocorticoid response markers using integrated multi-omic analysis from a randomized crossover trial.
Chantzichristos D, Svensson PA, Garner T, Glad CA, Walker BR, Bergthorsdottir R, Ragnarsson O, Trimpou P, Stimson RH, Borresen SW, Feldt-Rasmussen U, Jansson PA, Skrtic S, Stevens A, Johannsson G. Chantzichristos D, et al. Among authors: garner t. Elife. 2021 Apr 6;10:e62236. doi: 10.7554/eLife.62236. Elife. 2021. PMID: 33821793 Free PMC article.
Gene expression signatures predict response to therapy with growth hormone.
Stevens A, Murray P, De Leonibus C, Garner T, Koledova E, Ambler G, Kapelari K, Binder G, Maghnie M, Zucchini S, Bashnina E, Skorodok J, Yeste D, Belgorosky A, Siguero JL, Coutant R, Vangsøy-Hansen E, Hagenäs L, Dahlgren J, Deal C, Chatelain P, Clayton P. Stevens A, et al. Among authors: garner t. Pharmacogenomics J. 2021 Oct;21(5):594-607. doi: 10.1038/s41397-021-00237-5. Epub 2021 May 27. Pharmacogenomics J. 2021. PMID: 34045667 Free PMC article. Clinical Trial.
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