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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 3
2005 3
2006 7
2007 6
2008 16
2009 8
2010 5
2011 9
2012 16
2013 13
2014 28
2015 27
2016 20
2017 14
2018 16
2019 15
2020 12
2021 11
2022 17
2023 11
2024 5

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228 results

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Page 1
'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: chitty ls. Prenat Diagn. 2024 Apr;44(4):465-479. doi: 10.1002/pd.6537. Epub 2024 Mar 5. Prenat Diagn. 2024. PMID: 38441167
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F. Blayney GV, et al. Among authors: chitty ls. Prenat Diagn. 2024 Apr;44(4):422-431. doi: 10.1002/pd.6466. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054560 Free PMC article.
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.
Walton H, Ng PL, Simpson A, Bloom L, Chitty LS, Fulop NJ, Hunter A, Jones J, Kai J, Kerecuk L, Kokocinska M, Leeson-Beevers K, Parkes S, Ramsay AIG, Sutcliffe A, Taylor C, Morris S. Walton H, et al. Among authors: chitty ls. Orphanet J Rare Dis. 2023 Nov 23;18(1):364. doi: 10.1186/s13023-023-02934-9. Orphanet J Rare Dis. 2023. PMID: 37996938 Free PMC 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.
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.
Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies.
Hui L, Ellis K, Mayen D, Pertile MD, Reimers R, Sun L, Vermeesch J, Vora NL, Chitty LS. Hui L, et al. Among authors: chitty ls. Prenat Diagn. 2023 Jun;43(7):814-828. doi: 10.1002/pd.6357. Epub 2023 May 16. Prenat Diagn. 2023. PMID: 37076973 No abstract available.
228 results