Collin RWJ - Search Results

1

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.

Suárez-Herrera N, Riswick IB, Vázquez-Domínguez I, Duijkers L, Karjosukarso DW, Piccolo D, Bauwens M, De Baere E, Cheetham ME, Garanto A, Collin RWJ. Suárez-Herrera N, et al. Among authors: collin rwj. Mol Ther. 2024 Mar 6;32(3):837-851. doi: 10.1016/j.ymthe.2024.01.019. Epub 2024 Jan 18. Mol Ther. 2024. PMID: 38243599

2

IQCB1 mutations in patients with leber congenital amaurosis.

Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. Estrada-Cuzcano A, et al. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. Invest Ophthalmol Vis Sci. 2011. PMID: 20881296

3

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium; den Hollander AI, Klevering BJ, Cremers FP. Estrada-Cuzcano A, et al. Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177090 Free PMC article.

4

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI. Roosing S, et al. Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15. Ophthalmology. 2013. PMID: 23499059

5

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP. Collin RW, et al. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61. doi: 10.1073/pnas.1220864110. Epub 2013 May 28. Proc Natl Acad Sci U S A. 2013. PMID: 23716654 Free PMC article.

6

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

Garanto A, van Beersum SE, Peters TA, Roepman R, Cremers FP, Collin RW. Garanto A, et al. PLoS One. 2013 Nov 6;8(11):e79369. doi: 10.1371/journal.pone.0079369. eCollection 2013. PLoS One. 2013. PMID: 24223178 Free PMC article.

7

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP. Ajmal M, et al. J Med Genet. 2014 Jul;51(7):444-8. doi: 10.1136/jmedgenet-2014-102316. Epub 2014 Apr 15. J Med Genet. 2014. PMID: 24737827

8

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Astuti GD, et al. Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15. Mol Genet Genomic Med. 2015. PMID: 25629076 Free PMC article.

9

Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.

Garanto A, Duijkers L, Collin RW. Garanto A, et al. Int J Mol Sci. 2015 Mar 9;16(3):5285-98. doi: 10.3390/ijms16035285. Int J Mol Sci. 2015. PMID: 25761237 Free PMC article.

10

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C. Avila-Fernandez A, et al. Hum Mol Genet. 2015 Jul 15;24(14):4037-48. doi: 10.1093/hmg/ddv140. Epub 2015 Apr 16. Hum Mol Genet. 2015. PMID: 25882705

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