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Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
JAMA Ophthalmol. 2019 Sep 1;137(9):1005-1012. doi: 10.1001/jamaophthalmol.2019.2058.
JAMA Ophthalmol. 2019.
PMID: 31246245
Free PMC article.
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P.
Dudakova L, et al. Among authors: hafford tear nj.
Exp Eye Res. 2019 May;182:160-166. doi: 10.1016/j.exer.2019.03.002. Epub 2019 Mar 7.
Exp Eye Res. 2019.
PMID: 30851240
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Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Liskova P, Hafford-Tear NJ, Skalicka P, Malinka F, Jedlickova J, Ďuďáková Ľ, Pontikos N, Davidson AE, Tuft S.
Liskova P, et al. Among authors: hafford tear nj.
Acta Ophthalmol. 2022 Nov;100(7):e1426-e1430. doi: 10.1111/aos.15114. Epub 2022 Feb 17.
Acta Ophthalmol. 2022.
PMID: 35174971
Free article.
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CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Hafford-Tear NJ, Tsai YC, Sadan AN, Sanchez-Pintado B, Zarouchlioti C, Maher GJ, Liskova P, Tuft SJ, Hardcastle AJ, Clark TA, Davidson AE.
Hafford-Tear NJ, et al.
Genet Med. 2019 Sep;21(9):2092-2102. doi: 10.1038/s41436-019-0453-x. Epub 2019 Feb 8.
Genet Med. 2019.
PMID: 30733599
Free PMC article.
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CUGC for posterior polymorphous corneal dystrophy (PPCD).
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P.
Davidson AE, et al. Among authors: hafford tear nj.
Eur J Hum Genet. 2020 Jan;28(1):126-131. doi: 10.1038/s41431-019-0448-8. Epub 2019 Jun 14.
Eur J Hum Genet. 2020.
PMID: 31201376
Free PMC article.
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Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE.
Zarouchlioti C, et al. Among authors: hafford tear nj.
Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8.
Am J Hum Genet. 2018.
PMID: 29526280
Free PMC article.
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TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.
Fautsch MP, Wieben ED, Baratz KH, Bhattacharyya N, Sadan AN, Hafford-Tear NJ, Tuft SJ, Davidson AE.
Fautsch MP, et al. Among authors: hafford tear nj.
Prog Retin Eye Res. 2021 Mar;81:100883. doi: 10.1016/j.preteyeres.2020.100883. Epub 2020 Jul 28.
Prog Retin Eye Res. 2021.
PMID: 32735996
Free PMC article.
Review.
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Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Taylor AS, Barros D, Gobet N, Schuepbach T, McAllister B, Aeschbach L, Randall EL, Trofimenko E, Heuchan ER, Barszcz P, Ciosi M, Morgan J, Hafford-Tear NJ, Davidson AE, Massey TH, Monckton DG, Jones L, Network RIOTEHD, Xenarios I, Dion V.
Taylor AS, et al. Among authors: hafford tear nj.
NAR Genom Bioinform. 2022 Dec 5;4(4):lqac089. doi: 10.1093/nargab/lqac089. eCollection 2022 Dec.
NAR Genom Bioinform. 2022.
PMID: 36478959
Free PMC article.
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