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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. Among authors: pugh c. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Maximising value from a United Kingdom Biomedical Research Centre: study protocol.
Greenhalgh T, Ovseiko PV, Fahy N, Shaw S, Kerr P, Rushforth AD, Channon KM, Kiparoglou V; Partnerships for Health, Wealth and Innovation cross-cutting theme of the National Institute for Health Research Biomedical Research Centre, Oxford. Greenhalgh T, et al. Health Res Policy Syst. 2017 Aug 14;15(1):70. doi: 10.1186/s12961-017-0237-1. Health Res Policy Syst. 2017. PMID: 28806989 Free PMC article.
Publisher Correction: Semaphorin 3A causes immune suppression by inducing cytoskeletal paralysis in tumour-specific CD8+ T cells.
Barnkob MB, Michaels YS, André V, Macklin PS, Gileadi U, Valvo S, Rei M, Kulicke C, Chen JL, Jain V, Woodcock VK, Colin-York H, Hadjinicolaou AV, Kong Y, Mayya V, Mazet JM, Mead GJ, Bull JA, Rijal P, Pugh CW, Townsend AR, Gérard A, Olsen LR, Fritzsche M, Fulga TA, Dustin ML, Jones EY, Cerundolo V. Barnkob MB, et al. Among authors: pugh cw. Nat Commun. 2024 Apr 24;15(1):3448. doi: 10.1038/s41467-024-47775-7. Nat Commun. 2024. PMID: 38658563 Free PMC article. No abstract available.
Semmaphorin 3 A causes immune suppression by inducing cytoskeletal paralysis in tumour-specific CD8+ T cells.
Barnkob MB, Michaels YS, André V, Macklin PS, Gileadi U, Valvo S, Rei M, Kulicke C, Chen JL, Jain V, Woodcock VK, Colin-York H, Hadjinicolaou AV, Kong Y, Mayya V, Mazet JM, Mead GJ, Bull JA, Rijal P, Pugh CW, Townsend AR, Gérard A, Olsen LR, Fritzsche M, Fulga TA, Dustin ML, Jones EY, Cerundolo V. Barnkob MB, et al. Among authors: pugh cw. Nat Commun. 2024 Apr 12;15(1):3173. doi: 10.1038/s41467-024-47424-z. Nat Commun. 2024. PMID: 38609390 Free PMC article.
Lung Ultrasound Reproducibly Outperforms Computed Tomography in the Detection of Extravascular Lung Water in Patients Undergoing Haemodialysis.
Corcoran JP, Hew M, Attwood B, Shyamsundar M, Sutherland S, Ventura K, Benamore R, St Noble V, Piotrowska HE, Pugh CW, Laursen CB, Gleeson FV, Rahman NM. Corcoran JP, et al. Among authors: pugh cw. Diagnostics (Basel). 2024 Mar 11;14(6):589. doi: 10.3390/diagnostics14060589. Diagnostics (Basel). 2024. PMID: 38535011 Free PMC article.
610 results