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2022 6
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2025 1

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Page 1
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.
The CD19neg needle in the haystack.
Shah NN, Fry TJ. Shah NN, et al. Blood. 2022 Jul 7;140(1):4-6. doi: 10.1182/blood.2022016335. Blood. 2022. PMID: 35797020 Free PMC article. No abstract available.
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.
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.
Harteveld CL, Achour A, Fairuz Mohd Hasan NF, Legebeke J, Arkesteijn SJG, Huurne JT, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, Idrissi HE, Babbs C, Higgs DR, Koopmann TT, Vrettou C, Traeger-Synodinos J, Baas F; International Hemoglobinopathy Research Network (INHERENT). Harteveld CL, et al. Int J Mol Sci. 2024 Aug 16;25(16):8928. doi: 10.3390/ijms25168928. Int J Mol Sci. 2024. PMID: 39201615 Free PMC article. Review.
The α-globin super-enhancer acts in an orientation-dependent manner.
Kassouf MT, Francis HS, Gosden M, Suciu MC, Downes DJ, Harrold C, Larke M, Oudelaar M, Cornell L, Blayney J, Telenius J, Xella B, Shen Y, Sousos N, Sharpe JA, Sloane-Stanley J, Smith AJH, Babbs C, Hughes JR, Higgs DR. Kassouf MT, et al. Nat Commun. 2025 Jan 25;16(1):1033. doi: 10.1038/s41467-025-56380-1. Nat Commun. 2025. PMID: 39863595 Free PMC article.
Ancient genomic linkage couples metabolism with erythroid development.
Preston AE, Frost JN, Badat M, Teh M, Armitage AE, Norfo R, Wideman SK, Hanifi M, White N, Roy N, Ghesquiere B, Babbs C, Kassouf M, Davies J, Hughes JR, Beagrie R, Higgs DR, Drakesmith H. Preston AE, et al. bioRxiv [Preprint]. 2023 Sep 25:2023.09.25.558944. doi: 10.1101/2023.09.25.558944. bioRxiv. 2023. Update in: Nat Commun. 2025 Mar 24;16(1):2749. doi: 10.1038/s41467-025-57683-z. PMID: 37808769 Free PMC article. Updated. Preprint.
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Day FR, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Small KS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB. Koprulu M, et al. J Clin Endocrinol Metab. 2022 Mar 24;107(4):1065-1077. doi: 10.1210/clinem/dgab877. J Clin Endocrinol Metab. 2022. PMID: 34875679 Free PMC article.
16 results