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Page 1
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: higgs mr. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.
Fletcher SC, Hall C, Kennedy TJ, Pajusalu S, Wojcik MH, Boora U, Li C, Oja KT, Hendrix E, Westrip CA, Andrijes R, Piasecka SK, Singh M, El-Asrag ME, Ptasinska A, Tillmann V, Higgs MR, Carere DA, Beggs AD, Pappas J, Rabin R, Smerdon SJ, Stewart GS, Õunap K, Coleman ML. Fletcher SC, et al. Among authors: higgs mr. J Clin Invest. 2023 Apr 3;133(7):e152784. doi: 10.1172/JCI152784. J Clin Invest. 2023. PMID: 36795492 Free PMC article.
Genome-scale clustered regularly interspaced short palindromic repeats screen identifies nucleotide metabolism as an actionable therapeutic vulnerability in diffuse large B-cell lymphoma.
Davies N, Francis T, Oldreive C, Azam M, Wilson J, Byrd PJ, Burley M, Sharma-Oates A, Keane P, Alatawi S, Higgs MR, Rudzki Z, Ibrahim M, Perry T, Agathanggelou A, Hewitt AM, Smith E, Bonifer C, O'Connor M, Forment JV, Murray PG, Fennell E, Kelly G, Chang C, Stewart GS, Stankovic T, Kwok M, Taylor AM. Davies N, et al. Among authors: higgs mr. Haematologica. 2024 Jun 6. doi: 10.3324/haematol.2023.284404. Online ahead of print. Haematologica. 2024. PMID: 38841800 Free article.
Author Correction: C16orf72/HAPSTR1/TAPR1 functions with BRCA1/Senataxin to modulate replication-associated R-loops and confer resistance to PARP disruption.
Sharma AB, Ramlee MK, Kosmin J, Higgs MR, Wolstenholme A, Ronson GE, Jones D, Ebner D, Shamkhi N, Sims D, Wijnhoven PWG, Forment JV, Gibbs-Seymour I, Lakin ND. Sharma AB, et al. Among authors: higgs mr. Nat Commun. 2023 Nov 27;14(1):7784. doi: 10.1038/s41467-023-43353-5. Nat Commun. 2023. PMID: 38012134 Free PMC article. No abstract available.
C16orf72/HAPSTR1/TAPR1 functions with BRCA1/Senataxin to modulate replication-associated R-loops and confer resistance to PARP disruption.
Sharma AB, Ramlee MK, Kosmin J, Higgs MR, Wolstenholme A, Ronson GE, Jones D, Ebner D, Shamkhi N, Sims D, Wijnhoven PWG, Forment JV, Gibbs-Seymour I, Lakin ND. Sharma AB, et al. Among authors: higgs mr. Nat Commun. 2023 Aug 17;14(1):5003. doi: 10.1038/s41467-023-40779-9. Nat Commun. 2023. PMID: 37591890 Free PMC article.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Grange LJ, et al. Among authors: higgs mr. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
H3K4 methylation by SETD1A/BOD1L facilitates RIF1-dependent NHEJ.
Bayley R, Borel V, Moss RJ, Sweatman E, Ruis P, Ormrod A, Goula A, Mottram RMA, Stanage T, Hewitt G, Saponaro M, Stewart GS, Boulton SJ, Higgs MR. Bayley R, et al. Among authors: higgs mr. Mol Cell. 2022 May 19;82(10):1924-1939.e10. doi: 10.1016/j.molcel.2022.03.030. Epub 2022 Apr 18. Mol Cell. 2022. PMID: 35439434 Free PMC article.
34 results