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4,091 results

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Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service.
Hill M, Ellard S, Fisher J, Fulop N, Knight M, Kroese M, Ledger J, Leeson-Beevers K, McEwan A, McMullan D, Mellis R, Morris S, Parker M, Tapon D, Baple E, Blackburn L, Choudry A, Lafarge C, McInnes-Dean H, Peter M, Ramakrishnan R, Roberts L, Searle B, Smith E, Walton H, Wynn SL, Han Wu W, Chitty LS. Hill M, et al. Among authors: roberts l. NIHR Open Res. 2022 Jul 18;2:10. doi: 10.3310/nihropenres.13247.2. eCollection 2022. NIHR Open Res. 2022. PMID: 35935673 Free PMC article.
Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol.
Lewis C, Buchanan J, Clarke A, Clement E, Friedrich B, Hastings-Ward J, Hill M, Horn R, Lucassen AM, Patch C, Pickard A, Roberts L, Sanderson SC, Wynn SL, Vindrola-Padros C, Lakhanpaul M. Lewis C, et al. Among authors: roberts l. NIHR Open Res. 2021 Nov 22;1:23. doi: 10.3310/nihropenres.13236.1. eCollection 2021. NIHR Open Res. 2021. PMID: 35098132 Free PMC article.
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, Fisher J, Gajewska-Knapik K, Holder-Espinasse M, Lafarge C, Leeson-Beevers K, McEwan A, Pandya P, Parker M, Peet S, Roberts L, Sankaran S, Smith A, Tapon D, Wu WH, Wynn SL, Chitty LS, Hill M, Peter M. McInnes-Dean H, et al. Among authors: roberts l. Prenat Diagn. 2024 Apr;44(4):465-479. doi: 10.1002/pd.6537. Epub 2024 Mar 5. Prenat Diagn. 2024. PMID: 38441167
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
Costa A, Franková V, Robert G, Macek M, Patch C, Alexander E, Arellanesova A, Clayton-Smith J, Hunter A, Havlovicová M, Pourová R, Pritchard M, Roberts L, Zoubková V, Metcalfe A. Costa A, et al. Among authors: roberts l. J Community Genet. 2022 Jun;13(3):313-327. doi: 10.1007/s12687-022-00589-w. Epub 2022 May 6. J Community Genet. 2022. PMID: 35523996 Free PMC article.
Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
Costa A, Franková V, Robert G, Macek M, Patch C, Alexander E, Arellanesova A, Clayton-Smith J, Hunter A, Havlovicová M, Pourová R, Pritchard M, Roberts L, Zoubková V, Metcalfe A. Costa A, et al. Among authors: roberts l. J Community Genet. 2022 Jun;13(3):365-369. doi: 10.1007/s12687-022-00592-1. J Community Genet. 2022. PMID: 35773560 Free PMC article. No abstract available.
4,091 results