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

Year Number of Results
2007 1
2009 2
2010 2
2011 2
2012 4
2013 1
2014 2
2015 6
2016 3
2017 7
2018 4
2019 7
2020 2
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36 results
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Page 1
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.
Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Maguire AM, et al. Among authors: coppieters f. Lancet. 2009 Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5. Epub 2009 Oct 23. Lancet. 2009. PMID: 19854499 Free PMC article. Clinical Trial.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E. Van de Sompele S, et al. Among authors: coppieters f. Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Genet Med. 2019. PMID: 30377383 Free PMC article.
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Bauwens M, Storch S, Weisschuh N, Ceuterick-de Groote C, De Rycke R, Guillemyn B, De Jaegere S, Coppieters F, Van Coster R, Leroy BP, De Baere E. Bauwens M, et al. Among authors: coppieters f. Clin Genet. 2020 Mar;97(3):426-436. doi: 10.1111/cge.13673. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31721179 Free PMC article.
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M. Baetens D, et al. Among authors: coppieters f. Genet Med. 2017 Apr;19(4):367-376. doi: 10.1038/gim.2016.118. Epub 2016 Aug 4. Genet Med. 2017. PMID: 27490115 Free PMC article.
Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa.
Naessens S, Ruysschaert L, Lefever S, Coppieters F, De Baere E. Naessens S, et al. Among authors: coppieters f. Genes (Basel). 2019 May 10;10(5):363. doi: 10.3390/genes10050363. Genes (Basel). 2019. PMID: 31083481 Free PMC article.
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ. Valkenburg D, et al. Among authors: coppieters f. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817. Invest Ophthalmol Vis Sci. 2018. PMID: 30193310
The development of a novel SNP genotyping assay to differentiate cacao clones.
De Wever J, Everaert H, Coppieters F, Rottiers H, Dewettinck K, Lefever S, Messens K. De Wever J, et al. Among authors: coppieters f. Sci Rep. 2019 Jul 2;9(1):9512. doi: 10.1038/s41598-019-45884-8. Sci Rep. 2019. PMID: 31267023 Free PMC article.
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Hum Mutat. 2010. PMID: 20690115 Review.
High-throughput PCR assay design for targeted resequencing using primerXL.
Lefever S, Pattyn F, De Wilde B, Coppieters F, De Keulenaer S, Hellemans J, Vandesompele J. Lefever S, et al. Among authors: coppieters f. BMC Bioinformatics. 2017 Sep 6;18(1):400. doi: 10.1186/s12859-017-1809-3. BMC Bioinformatics. 2017. PMID: 28877663 Free PMC article.
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Naessens S, De Zaeytijd J, Syx D, Vandenbroucke RE, Smeets F, Van Cauwenbergh C, Leroy BP, Peelman F, Coppieters F. Naessens S, et al. Among authors: coppieters f. Hum Mutat. 2019 May;40(5):539-551. doi: 10.1002/humu.23713. Epub 2019 Feb 6. Hum Mutat. 2019. PMID: 30668888 Free PMC article.
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