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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.
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.
'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.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, Mc… See abstract for full author list ➔ Quinodoz M, et al. Among authors: roberts l. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
4,118 results