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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 4
2006 4
2007 8
2008 8
2009 5
2010 4
2011 7
2012 5
2013 8
2014 7
2015 12
2016 10
2017 6
2018 9
2019 5
2020 5
2021 4
2022 2
2023 7
2024 1

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114 results

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Page 1
Non-syndromic retinitis pigmentosa.
Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Among authors: roepman r. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.
A look into retinal organoids: methods, analytical techniques, and applications.
Afanasyeva TAV, Corral-Serrano JC, Garanto A, Roepman R, Cheetham ME, Collin RWJ. Afanasyeva TAV, et al. Among authors: roepman r. Cell Mol Life Sci. 2021 Oct;78(19-20):6505-6532. doi: 10.1007/s00018-021-03917-4. Epub 2021 Aug 22. Cell Mol Life Sci. 2021. PMID: 34420069 Free PMC article. Review.
Primary cilia sense glutamine availability and respond via asparagine synthetase.
Steidl ME, Nigro EA, Nielsen AK, Pagliarini R, Cassina L, Lampis M, Podrini C, Chiaravalli M, Mannella V, Distefano G, Yang M, Aslanyan M, Musco G, Roepman R, Frezza C, Boletta A. Steidl ME, et al. Among authors: roepman r. Nat Metab. 2023 Mar;5(3):385-397. doi: 10.1038/s42255-023-00754-6. Epub 2023 Mar 6. Nat Metab. 2023. PMID: 36879119 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: roepman r. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: roepman r. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Moonlighting of mitotic regulators in cilium disassembly.
Doornbos C, Roepman R. Doornbos C, et al. Among authors: roepman r. Cell Mol Life Sci. 2021 Jun;78(11):4955-4972. doi: 10.1007/s00018-021-03827-5. Epub 2021 Apr 15. Cell Mol Life Sci. 2021. PMID: 33860332 Free PMC article. Review.
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics; Bamshad MJ; Genomics England Research Consortium; Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D. Latour BL, et al. Among authors: roepman r. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656. J Clin Invest. 2020. PMID: 32453716 Free PMC article.
Artificial intelligence: A powerful paradigm for scientific research.
Xu Y, Liu X, Cao X, Huang C, Liu E, Qian S, Liu X, Wu Y, Dong F, Qiu CW, Qiu J, Hua K, Su W, Wu J, Xu H, Han Y, Fu C, Yin Z, Liu M, Roepman R, Dietmann S, Virta M, Kengara F, Zhang Z, Zhang L, Zhao T, Dai J, Yang J, Lan L, Luo M, Liu Z, An T, Zhang B, He X, Cong S, Liu X, Zhang W, Lewis JP, Tiedje JM, Wang Q, An Z, Wang F, Zhang L, Huang T, Lu C, Cai Z, Wang F, Zhang J. Xu Y, et al. Among authors: roepman r. Innovation (Camb). 2021 Oct 28;2(4):100179. doi: 10.1016/j.xinn.2021.100179. eCollection 2021 Nov 28. Innovation (Camb). 2021. PMID: 34877560 Free PMC article. Review.
A targeted multi-proteomics approach generates a blueprint of the ciliary ubiquitinome.
Aslanyan MG, Doornbos C, Diwan GD, Anvarian Z, Beyer T, Junger K, van Beersum SEC, Russell RB, Ueffing M, Ludwig A, Boldt K, Pedersen LB, Roepman R. Aslanyan MG, et al. Among authors: roepman r. Front Cell Dev Biol. 2023 Jan 26;11:1113656. doi: 10.3389/fcell.2023.1113656. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36776558 Free PMC article.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty GW, Mizuno K, Nöthe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strünker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Große-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Höben IM, Junger K, Gützlaff J, Cindrić S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H. Dougherty GW, et al. Among authors: roepman r. Nat Commun. 2020 Nov 2;11(1):5520. doi: 10.1038/s41467-020-19113-0. Nat Commun. 2020. PMID: 33139725 Free PMC article.
114 results