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283 results

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Preferences for coordinated care for rare diseases: discrete choice experiment.
Morris S, Walton H, Simpson A, Leeson-Beevers K, Bloom L, Hunter A, Ramsay AIG, Fulop NJ, Chitty LS, Kai J, Sutcliffe AG, Kokocinska M, Kerecuk L, Taylor CA, Ng PL. Morris S, et al. Among authors: chitty ls. Orphanet J Rare Dis. 2024 Sep 9;19(1):332. doi: 10.1186/s13023-024-03353-0. Orphanet J Rare Dis. 2024. PMID: 39252123 Free PMC article.
An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol.
Sagar RL, Åström E, Chitty LS, Crowe B, David AL, DeVile C, Forsmark A, Franzen V, Hermeren G, Hill M, Johansson M, Lindemans C, Lindgren P, Nijhuis W, Oepkes D, Rehberg M, Sahlin NE, Sakkers R, Semler O, Sundin M, Walther-Jallow L, Verweij EJTJ, Westgren M, Götherström C. Sagar RL, et al. Among authors: chitty ls. BMJ Open. 2024 Jun 4;14(6):e079767. doi: 10.1136/bmjopen-2023-079767. BMJ Open. 2024. PMID: 38834319 Free PMC article.
Benefits for children with suspected cancer from routine whole-genome sequencing.
Hodder A, Leiter SM, Kennedy J, Addy D, Ahmed M, Ajithkumar T, Allinson K, Ancliff P, Bailey S, Barnard G, Burke GAA, Burns C, Cano-Flanagan J, Chalker J, Coleman N, Cheng D, Clinch Y, Dryden C, Ghorashian S, Griffin B, Horan G, Hubank M, May P, McDerra J, Nagrecha R, Nicholson J, O'Connor D, Pavasovic V, Quaegebeur A, Rao A, Roberts T, Samarasinghe S, Stasevich I, Tadross JA, Trayers C, Trotman J, Vora A, Watkins J, Chitty LS, Bowdin S, Armstrong R, Murray MJ, Hook CE, Tarpey P, Vedi A, Bartram J, Behjati S. Hodder A, et al. Among authors: chitty ls. Nat Med. 2024 Jul;30(7):1905-1912. doi: 10.1038/s41591-024-03056-w. Epub 2024 Jul 2. Nat Med. 2024. PMID: 38956197 Free PMC article.
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: chitty ls. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken WL, Falabella M, Pizzamiglio C, Woodward CE, Scotchman E, Chitty LS, Polke JM, Bugiardini E, Hanna MG, Vandrovcova J, Chandler N, Labrum R, Pitceathly RDS. Macken WL, et al. Among authors: chitty ls. Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29. Expert Rev Mol Diagn. 2023. PMID: 37642407 Review.
[No title available]
[No authors listed] [No authors listed] PMID: 39250009
283 results