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Page 1
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
de Bruijn SE, Panneman DM, Weisschuh N, Cadena EL, Boonen EGM, Holtes LK, Astuti GDN, Cremers FPM, Leijsten N, Corominas J, Gilissen C, Skowronska A, Woodley J, Beggs AD, Toulis V, Chen D, Cheetham ME, Hardcastle AJ, McLaren TL, Lamey TM, Thompson JA, Chen FK, de Roach JN, Urwin IR, Sullivan LS, Roosing S. de Bruijn SE, et al. Among authors: cheetham me. Front Genet. 2024 Oct 23;15:1469686. doi: 10.3389/fgene.2024.1469686. eCollection 2024. Front Genet. 2024. PMID: 39507620 Free PMC article.
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, Tuft SJ, Davidson AE. Zarouchlioti C, et al. Among authors: cheetham me. EBioMedicine. 2024 Oct;108:105328. doi: 10.1016/j.ebiom.2024.105328. Epub 2024 Sep 14. EBioMedicine. 2024. PMID: 39278108 Free PMC article.
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Braddock FL, Gardner JC, Bhattacharyya N, Sanchez-Pintado B, Costa M, Zarouchlioti C, Szabo A, Lišková P, Cheetham ME, Young RD, Thaung C, Davidson AE, Tuft SJ, Hardcastle AJ. Braddock FL, et al. Among authors: cheetham me. Eur J Hum Genet. 2024 Dec;32(12):1583-1589. doi: 10.1038/s41431-024-01687-8. Epub 2024 Aug 21. Eur J Hum Genet. 2024. PMID: 39169229 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: cheetham me. 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.
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.
Georgiou M, Robson AG, Uwaydat SH, Ji MH, Shakarchi AF, Pontikos N, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M. Georgiou M, et al. Among authors: cheetham me. Am J Ophthalmol. 2024 May;261:112-120. doi: 10.1016/j.ajo.2023.11.005. Epub 2023 Nov 16. Am J Ophthalmol. 2024. PMID: 37977507 Free PMC article.
Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.
Corral-Serrano JC, Sladen PE, Ottaviani D, Rezek OF, Athanasiou D, Jovanovic K, van der Spuy J, Mansfield BC, Cheetham ME. Corral-Serrano JC, et al. Among authors: cheetham me. Cells. 2023 Jun 7;12(12):1575. doi: 10.3390/cells12121575. Cells. 2023. PMID: 37371046 Free PMC article.
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids.
Afanasyeva TAV, Athanasiou D, Perdigao PRL, Whiting KR, Duijkers L, Astuti GDN, Bennett J, Garanto A, van der Spuy J, Roepman R, Cheetham ME, Collin RWJ. Afanasyeva TAV, et al. Among authors: cheetham me. Mol Ther Methods Clin Dev. 2023 May 17;29:522-531. doi: 10.1016/j.omtm.2023.05.012. eCollection 2023 Jun 8. Mol Ther Methods Clin Dev. 2023. PMID: 37305852 Free PMC article.
182 results