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Year Number of Results
2018 3
2019 2
2020 8
2021 9
2022 2
2023 3
2024 0

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26 results

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Page 1
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.
Direct correction of haemoglobin E β-thalassaemia using base editors.
Badat M, Ejaz A, Hua P, Rice S, Zhang W, Hentges LD, Fisher CA, Denny N, Schwessinger R, Yasara N, Roy NBA, Issa F, Roy A, Telfer P, Hughes J, Mettananda S, Higgs DR, Davies JOJ. Badat M, et al. Nat Commun. 2023 Apr 19;14(1):2238. doi: 10.1038/s41467-023-37604-8. Nat Commun. 2023. PMID: 37076455 Free PMC article.
Reactivation of a developmentally silenced embryonic globin gene.
King AJ, Songdej D, Downes DJ, Beagrie RA, Liu S, Buckley M, Hua P, Suciu MC, Marieke Oudelaar A, Hanssen LLP, Jeziorska D, Roberts N, Carpenter SJ, Francis H, Telenius J, Olijnik AA, Sharpe JA, Sloane-Stanley J, Eglinton J, Kassouf MT, Orkin SH, Pennacchio LA, Davies JOJ, Hughes JR, Higgs DR, Babbs C. King AJ, et al. Nat Commun. 2021 Jul 21;12(1):4439. doi: 10.1038/s41467-021-24402-3. Nat Commun. 2021. PMID: 34290235 Free PMC article.
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.
Potter JE, Petts G, Ghosh A, White FJ, Kinsella JL, Hughes S, Roberts J, Hodgkinson A, Brammeier K, Church H, Merrigan C, Hughes J, Evans P, Campbell H, Bonney D, Newman WG, Bigger BW, Broomfield A, Jones SA, Wynn RF. Potter JE, et al. Orphanet J Rare Dis. 2021 May 21;16(1):235. doi: 10.1186/s13023-021-01849-7. Orphanet J Rare Dis. 2021. PMID: 34020687 Free PMC article.
26 results