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Year Number of Results
2007 1
2008 2
2009 3
2010 4
2011 1
2012 2
2013 2
2014 4
2015 7
2016 2
2017 3
2018 4
2019 4
2020 4
2021 9
2022 15
2023 9
2024 11
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2026 4

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96 results

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Page 1
The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.
Shalom S, Gradstein L, Pras E, Valensi J, Birk OS, Blumenfeld A, Eilat A, Macarov M, Poleg T, Cremers FPM, Roosing S, Panneman DM, Hollander N, Goldenberg-Cohen N, Yahalom C, Banin E, Ben-Yosef T, Sharon D. Shalom S, et al. Invest Ophthalmol Vis Sci. 2026 Apr 1;67(4):24. doi: 10.1167/iovs.67.4.24. Invest Ophthalmol Vis Sci. 2026. PMID: 41972860 Free PMC article.
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.
Moye AR, McCafferty CL, Lin S, Han JH, Dudakova L, Rodenburg K, Szabó V, Nagy ZZ, Zur D, Vajter M, Kousal B, Moulin AP, Graff-Meyer A, Roosing S, Mahroo OA, Arno G, Webster AR, Ben-Yosef T, Liskova P, Engel BD, Zobor D, Quinodoz M, Rivolta C. Moye AR, et al. Am J Hum Genet. 2026 Mar 5;113(3):582-599. doi: 10.1016/j.ajhg.2026.02.001. Epub 2026 Feb 24. Am J Hum Genet. 2026. PMID: 41742423 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNA genes 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, Barakat TS, Barboni MTS, Bauwens M, Ben-Yosef T, Bernard V, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Bremond-Gignac D, Britten-Jones AC, Bujakowska KM, Burin des Roziers C, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Chadderton N, Charbel Issa P, Coutinho-Santos L, Daiger SP, De Baere E, De Bruyne M, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fenner BJ, Fernández-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Gonzàlez-Duarte R, Goto K, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoefsloot LH, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jensson BO, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Klaver CCW, Knézy K, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Lei… See abstract for full author list ➔ Quinodoz M, et al. Nat Genet. 2026 Jan;58(1):169-179. doi: 10.1038/s41588-025-02451-4. Epub 2026 Jan 9. Nat Genet. 2026. PMID: 41513982 Free PMC article.
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT, Jazet IM, Yzer S, Pas J, Demirdas S, van Rossum EFC, Thiadens AAHJ, van Beek R, Haer-Wigman L, Barge-Schaapveld DQCM, Brasch-Andersen C, Frost S, Bauwens M, De Baere E, Balikova I, Van den Broeck F, Weisz-Hubshman M, Joset P, Miny P, Filges I, Kohl S, De Angeli P, Kühlewein L, Bodenbender JP, Haack T, Poths K, Fernandez-Caballero L, Corton M, Blanco Kelly F, Ayuso C, Martínez-Esteban P, Vissing J, Díaz-Manera J, Straub V, Töpf A, Lin S, Arno G, Macken WL, Spillane J, Ramachandran R, de Vrieze E, van Ham T, Roosing S, Oud MM. Vulto-van Silfhout AT, et al. Genet Med. 2025 Oct;27(10):101513. doi: 10.1016/j.gim.2025.101513. Epub 2025 Jun 28. Genet Med. 2025. PMID: 40590205 Free PMC article.
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. Genet Med. 2025 Jul;27(7):101427. doi: 10.1016/j.gim.2025.101427. Epub 2025 Apr 4. Genet Med. 2025. PMID: 40191993 Free PMC article.
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S, Leibu R, Newman H, Ehrenberg M, Goldenberg-Cohen N, Zayit-Soudry S, Mezer E, Rotenstreich Y, Deitch I, Panneman DM, Zur D, Chervinsky E, Shalev SA, Cremers FPM, Sharon D, Roosing S, Ben-Yosef T. Kulyamzin S, et al. Genes (Basel). 2025 Jun 26;16(7):745. doi: 10.3390/genes16070745. Genes (Basel). 2025. PMID: 40725402 Free PMC article.
96 results