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Page 1
Defining genome architecture at base-pair resolution.
Hua P, Badat M, Hanssen LLP, Hentges LD, Crump N, Downes DJ, Jeziorska DM, Oudelaar AM, Schwessinger R, Taylor S, Milne TA, Hughes JR, Higgs DR, Davies JOJ. Hua P, et al. Nature. 2021 Jul;595(7865):125-129. doi: 10.1038/s41586-021-03639-4. Epub 2021 Jun 9. Nature. 2021. PMID: 34108683
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity.
COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: julian.knight@well.ox.ac.uk; COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: julian.knight@well.ox.ac.uk, et al. Cell. 2022 Mar 3;185(5):916-938.e58. doi: 10.1016/j.cell.2022.01.012. Epub 2022 Jan 21. Cell. 2022. PMID: 35216673 Free PMC article.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Natural and Experimental Rewiring of Gene Regulatory Regions.
Downes DJ, Hughes JR. Downes DJ, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:73-97. doi: 10.1146/annurev-genom-112921-010715. Epub 2022 Apr 26. Annu Rev Genomics Hum Genet. 2022. PMID: 35472292 Free article. Review.
Between form and function: the complexity of genome folding.
Oudelaar AM, Hanssen LLP, Hardison RC, Kassouf MT, Hughes JR, Higgs DR. Oudelaar AM, et al. Hum Mol Genet. 2017 Oct 1;26(R2):R208-R215. doi: 10.1093/hmg/ddx306. Hum Mol Genet. 2017. PMID: 28977451 Free PMC article. Review.
52 results