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Year Number of Results
2013 1
2014 2
2015 3
2016 3
2017 4
2018 1
2019 2
2020 4
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2023 4
2024 3

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Inglehearn CF, Yahya S, Smith CEL, Poulter JA, Ali M, Toomes C, Ellingford J, Black GC, Arno G, Webster AR. Inglehearn CF, et al. Among authors: smith cel. Ophthalmology. 2023 Mar;130(3):e9-e10. doi: 10.1016/j.ophtha.2022.10.015. Epub 2022 Nov 15. Ophthalmology. 2023. PMID: 36400608 Free article. No abstract available.
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ. Smith CEL, et al. Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017. Front Physiol. 2017. PMID: 28694781 Free PMC article. Review.
Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.
Hany U, Watson CM, Liu L, Nikolopoulos G, Smith CEL, Poulter JA, Brown CJ, Patel A, Rodd HD, Balmer R, Harfoush A, Al-Jawad M, Inglehearn CF, Mighell AJ. Hany U, et al. Among authors: smith cel. J Dent Res. 2024 Jan;103(1):22-30. doi: 10.1177/00220345231203694. Epub 2023 Dec 6. J Dent Res. 2024. PMID: 38058155 Free PMC article.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Yahya S, Smith CEL, Poulter JA, McKibbin M, Arno G, Ellingford J, Kämpjärvi K, Khan MI, Cremers FPM, Hardcastle AJ, Castle B, Steel DHW, Webster AR, Black GC, El-Asrag ME, Ali M, Toomes C, Inglehearn CF; UK Inherited Retinal Dystrophy Consortium; Genomics England Research Consortium. Yahya S, et al. Among authors: smith cel. Ophthalmology. 2023 Jan;130(1):68-76. doi: 10.1016/j.ophtha.2022.07.023. Epub 2022 Aug 5. Ophthalmology. 2023. PMID: 35934205 Free article.
New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
Nikolopoulos G, Smith CEL, Brookes SJ, El-Asrag ME, Brown CJ, Patel A, Murillo G, O'Connell MJ, Inglehearn CF, Mighell AJ. Nikolopoulos G, et al. Among authors: smith cel. Clin Genet. 2020 May;97(5):688-695. doi: 10.1111/cge.13721. Epub 2020 Feb 21. Clin Genet. 2020. PMID: 32052416 Free PMC article.
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.
Smith CEL, Poulter JA, Brookes SJ, Murillo G, Silva S, Brown CJ, Patel A, Hussain H, Kirkham J, Inglehearn CF, Mighell AJ. Smith CEL, et al. J Dent Res. 2019 Jun;98(6):698-704. doi: 10.1177/0022034519835205. Epub 2019 Mar 24. J Dent Res. 2019. PMID: 30905256 Free PMC article.
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.
McClinton B, Crinnion LA, McKibbin M, Mukherjee R, Poulter JA, Smith CEL, Ali M, Watson CM, Inglehearn CF, Toomes C. McClinton B, et al. Among authors: smith cel. Mol Genet Genomic Med. 2023 Jun;11(6):e2164. doi: 10.1002/mgg3.2164. Epub 2023 Mar 19. Mol Genet Genomic Med. 2023. PMID: 36934458 Free PMC article.
25 results