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Year Number of Results
2007 1
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2011 2
2012 4
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2017 7
2018 4
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2020 3
2021 2
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53 results

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Page 1
RetiGene, a comprehensive gene atlas for inherited retinal diseases.
Rivolta C, Celik E, Kamdar D, Cancellieri F, Kaminska K, Ullah M, Barberán-Martínez P, Bouckaert M, Cortón M, Delanote E, Fernández-Caballero L, García García G, Holtes LK, Karali M, Lopez I, Peter VG, Schneider N, Vincke L, Ayuso C, Banfi S, Bocquet B, Coppieters F, Cremers FPM, Inglehearn CF, Iwata T, Kalatzis V, Koenekoop RK, Millán JM, Sharon D, Toomes C, Quinodoz M. Rivolta C, et al. Among authors: coppieters f. Am J Hum Genet. 2025 Oct 2;112(10):2253-2265. doi: 10.1016/j.ajhg.2025.08.017. Epub 2025 Sep 16. Am J Hum Genet. 2025. PMID: 40961941 Free PMC article. Review.
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Quinodoz M, Celik E, Kamdar D, Cancellieri F, Kaminska K, Ullah M, Barberán-Martínez P, Bouckaert M, Cortón M, Delanote E, Fernández-Caballero L, García GG, Holtes LK, Karali M, Lopez I, Peter VG, Schneider N, Vincke L, Ayuso C, Banfi S, Bocquet B, Coppieters F, Cremers FPM, Inglehearn CF, Iwata T, Kalatzis V, Koenekoop RK, Millán JM, Sharon D, Toomes C, Rivolta C. Quinodoz M, et al. Among authors: coppieters f. bioRxiv [Preprint]. 2025 Jun 8:2025.06.08.653722. doi: 10.1101/2025.06.08.653722. bioRxiv. 2025. Update in: Am J Hum Genet. 2025 Oct 2;112(10):2253-2265. doi: 10.1016/j.ajhg.2025.08.017. PMID: 40661613 Free PMC article. Updated. Preprint.
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.
Hayman T, Ovadia S, Krishnan J, Bouckaert M, Panneman DM, English M, Valensi J, Cremers FPM, Ben Yosef T, van den Born LI, de Bruijn SE, Roosing S, Banin E, Khateb S, Ashery-Padan R, Coppieters F, Swaroop A, Sharon D. Hayman T, et al. Among authors: coppieters f. Genet Med. 2025 Jul;27(7):101427. doi: 10.1016/j.gim.2025.101427. Epub 2025 Apr 4. Genet Med. 2025. PMID: 40191993
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.
Stemerdink M, Riepe T, Zomer N, Salz R, Kwint M, Oostrik J, Timmermans R, Ferrari B, Ferrari S, Dueñas Rey A, Delanote E, de Bruijn SE, Kremer H, Roosing S, Coppieters F, Hoischen A, Cremers FPM, 't Hoen PAC, van Wijk E, de Vrieze E. Stemerdink M, et al. Among authors: coppieters f. Genome Res. 2025 Apr 14;35(4):725-739. doi: 10.1101/gr.280060.124. Genome Res. 2025. PMID: 40037841 Free PMC article.
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.
Corral-Serrano JC, Vaclavik V, Van de Sompele S, Kaminska K, Jovanovic K, Escher P, Van den Broeck F, Cancellieri F, Toulis V, Leroy BP, de Zaeytijd J, You Z, Ottaviani D, Quinodoz M, Bordeanu G, Hardcastle AJ, Coppieters F, Tran VH, Cheetham ME, Rivolta C, De Baere E. Corral-Serrano JC, et al. Among authors: coppieters f. Hum Mol Genet. 2025 Apr 17;34(9):821-834. doi: 10.1093/hmg/ddaf029. Hum Mol Genet. 2025. PMID: 40037334 Free PMC article.
A proteogenomic atlas of the human neural retina.
Riepe TV, Stemerdink M, Salz R, Rey AD, de Bruijn SE, Boonen E, Tomkiewicz TZ, Kwint M, Gloerich J, Wessels HJCT, Delanote E, De Baere E, van Nieuwerburgh F, De Keulenaer S, Ferrari B, Ferrari S, Coppieters F, Cremers FPM, van Wyk E, Roosing S, de Vrieze E, 't Hoen PAC. Riepe TV, et al. Among authors: coppieters f. Front Genet. 2024 Sep 19;15:1451024. doi: 10.3389/fgene.2024.1451024. eCollection 2024. Front Genet. 2024. PMID: 39371417 Free PMC article.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Among authors: coppieters f. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
53 results