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Page 1
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: davidson ae. 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.
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: davidson ae. 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.
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. Among authors: davidson ae. 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.
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: davidson ae. 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
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. 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.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Bhattacharyya N, Chai N, Hafford-Tear NJ, Sadan AN, Szabo A, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Moghul I, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, Tuft SJ, Davidson AE. Bhattacharyya N, et al. Among authors: davidson ae. PLoS Genet. 2024 May 7;20(5):e1011230. doi: 10.1371/journal.pgen.1011230. eCollection 2024 May. PLoS Genet. 2024. PMID: 38713708 Free PMC article.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Among authors: davidson ae. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 Free PMC article.
100 results