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

Year Number of Results
1991 1
1995 1
1996 3
1997 2
1998 2
1999 7
2000 2
2001 5
2003 8
2004 1
2005 2
2006 4
2007 6
2008 3
2009 9
2010 5
2011 9
2012 7
2013 9
2014 8
2015 14
2016 11
2017 10
2018 10
2019 7
2020 6
2021 4
2022 8
2023 13
2024 6

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161 results

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Page 1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: mckibbin m. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 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: mckibbin m. 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.
Response to Fajgenbaum.
Davies AJ, Kelly SP, Naylor SG, Bhatt PR, Mathews JP, Sahni J, Haslett R, McKibbin M. Davies AJ, et al. Among authors: mckibbin m. Eye (Lond). 2013 Dec;27(12):1421. doi: 10.1038/eye.2013.220. Epub 2013 Oct 11. Eye (Lond). 2013. PMID: 24113302 Free PMC article. No abstract available.
Purtscher's and Purtscher-like retinopathies: a review.
Agrawal A, McKibbin MA. Agrawal A, et al. Among authors: mckibbin ma. Surv Ophthalmol. 2006 Mar-Apr;51(2):129-36. doi: 10.1016/j.survophthal.2005.12.003. Surv Ophthalmol. 2006. PMID: 16500213 Review.
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos EJR, Ji Y, Moya Molina M, Collin J, Queen R, Dorgau B, Watson A, Kurzawa-Akanbi M, Laws R, Saxena A, Shyan Beh C, Siachisumo C, Goertler F, Karwatka M, Davey T, Inglehearn CF, McKibbin M, Lührmann R, Steel DH, Elliott DJ, Armstrong L, Urlaub H, Ali RR, Grellscheid SN, Johnson CA, Mozaffari-Jovin S, Lako M. Atkinson R, et al. Among authors: mckibbin m. Nat Commun. 2024 Apr 11;15(1):3138. doi: 10.1038/s41467-024-47253-0. Nat Commun. 2024. PMID: 38605034 Free PMC article.
CNGB3 mutations cause severe rod dysfunction.
Maguire J, McKibbin M, Khan K, Kohl S, Ali M, McKeefry D. Maguire J, et al. Among authors: mckibbin m. Ophthalmic Genet. 2018 Jan-Feb;39(1):108-114. doi: 10.1080/13816810.2017.1368087. Epub 2017 Sep 20. Ophthalmic Genet. 2018. PMID: 28929832
Secondary End Points in the RIVAL Study.
McKibbin M, Downey L. McKibbin M, et al. JAMA Ophthalmol. 2019 Apr 1;137(4):379-381. doi: 10.1001/jamaophthalmol.2018.6807. JAMA Ophthalmol. 2019. PMID: 30676615 No abstract available.
Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes.
Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT. Khan KN, et al. Among authors: mckibbin m. Prog Retin Eye Res. 2016 Jul;53:70-106. doi: 10.1016/j.preteyeres.2016.04.008. Epub 2016 May 10. Prog Retin Eye Res. 2016. PMID: 27173377 Review.
161 results