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Year Number of Results
1995 1
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1997 2
1999 4
2000 5
2001 2
2002 6
2003 6
2004 4
2005 9
2006 3
2007 5
2008 3
2009 3
2010 3
2011 2
2012 10
2013 7
2014 10
2015 8
2016 14
2017 8
2018 8
2019 6
2020 5
2021 4
2022 6
2023 4
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2025 6

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142 results

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Page 1
The pathogenesis of keratoconus.
Davidson AE, Hayes S, Hardcastle AJ, Tuft SJ. Davidson AE, et al. Among authors: hardcastle aj. Eye (Lond). 2014 Feb;28(2):189-95. doi: 10.1038/eye.2013.278. Epub 2013 Dec 20. Eye (Lond). 2014. PMID: 24357835 Free PMC article. Review.
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Malka S, et al. Among authors: hardcastle aj. Am J Hum Genet. 2024 Sep 5;111(9):2012-2030. doi: 10.1016/j.ajhg.2024.07.020. Epub 2024 Aug 26. Am J Hum Genet. 2024. PMID: 39191256 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, … See abstract for full author list ➔ Quinodoz M, et al. Among authors: hardcastle aj. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M. Aboshiha J, et al. Among authors: hardcastle aj. Br J Ophthalmol. 2016 Jan;100(1):115-21. doi: 10.1136/bjophthalmol-2014-306505. Epub 2015 Mar 13. Br J Ophthalmol. 2016. PMID: 25770143 Free PMC article. Review.
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: hardcastle aj. EBioMedicine. 2024 Oct;108:105328. doi: 10.1016/j.ebiom.2024.105328. Epub 2024 Sep 14. EBioMedicine. 2024. PMID: 39278108 Free PMC article.
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
Pontikos N, Woof WA, Lin S, Ghoshal B, Mendes BS, Veturi A, Nguyen Q, Javanmardi B, Georgiou M, Hustinx A, Ibarra-Arellano MA, Moghul I, Liu Y, Pfau K, Pfau M, Shah M, Yu J, Al-Khuzaei S, Wagner SK, Daich Varela M, Cabral de Guimarães TA, Sen S, Naik G, Sumodhee D, Fu DJ, Kabiri N, Furman J, Liefers B, Lee AY, De Silva SR, Marques C, Motta F, Fujinami-Yokokawa Y, Hardcastle AJ, Arno G, Lorenz B, Herrmann P, Fujinami K, Sallum J, Madhusudhan S, Downes SM, Holz FG, Balaskas K, Webster AR, Mahroo OA, Krawitz PM, Michaelides M. Pontikos N, et al. Among authors: hardcastle aj. Nat Mach Intell. 2025;7(6):967-978. doi: 10.1038/s42256-025-01040-8. Epub 2025 Jun 18. Nat Mach Intell. 2025. PMID: 40567353 Free PMC article.
Focus on molecules: nyctalopin.
Poopalasundaram S, Erskine L, Cheetham ME, Hardcastle AJ. Poopalasundaram S, et al. Among authors: hardcastle aj. Exp Eye Res. 2005 Dec;81(6):627-8. doi: 10.1016/j.exer.2005.07.017. Epub 2005 Sep 12. Exp Eye Res. 2005. PMID: 16157331 Review. No abstract available.
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.
Liu S, Sadan AN, Bhattacharyya N, Zarouchlioti C, Szabo A, Abreu Costa M, Hafford-Tear NJ, Kladny AS, Dudakova L, Ciosi M, Moghul I, Wilkins MR, Allan B, Skalicka P, Hardcastle AJ, Pontikos N, Bunce C, Monckton DG, Muthusamy K, Liskova P, Tuft SJ, Davidson AE. Liu S, et al. Among authors: hardcastle aj. JAMA Ophthalmol. 2025 Apr 1;143(4):338-347. doi: 10.1001/jamaophthalmol.2025.0109. JAMA Ophthalmol. 2025. PMID: 40079965 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: hardcastle aj. 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: hardcastle aj. 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.
142 results