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

Year Number of Results
1992 3
1993 1
1994 4
1995 2
1996 1
1999 2
2001 1
2002 1
2003 3
2004 2
2005 2
2006 4
2007 3
2008 2
2009 3
2010 8
2011 6
2012 5
2013 8
2014 9
2015 12
2016 4
2017 7
2018 10
2019 7
2020 5
2021 14
2022 6
2023 7
2024 3

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131 results

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Page 1
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: van den born li. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: van den born li. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Correspondence.
Boon CJ, van den Born LI, Keunen JE, Bergen AA, Riemslag FC, Florijn RJ, van Schooneveld MJ. Boon CJ, et al. Among authors: van den born li. Retina. 2015 Sep;35(9):e57-8. doi: 10.1097/IAE.0000000000000696. Retina. 2015. PMID: 26312452 No abstract available.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: van den born li. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free article.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: van den born li. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. den Hollander AI, et al. Among authors: van den born li. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS.
Pierrache LHM, Ghafaryasl B, Khan MI, Yzer S, van Genderen MM, Schuil J, Boonstra FN, Pott JWR, de Faber JTHN, Tjon-Fo-Sang MJH, Vermeer KA, Cremers FPM, Klaver CCW, van den Born LI. Pierrache LHM, et al. Among authors: van den born li. Retina. 2020 Sep;40(9):1812-1828. doi: 10.1097/IAE.0000000000002681. Retina. 2020. PMID: 32032261
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S. Fadaie Z, et al. Among authors: van den born li. J Med Genet. 2022 May;59(5):438-444. doi: 10.1136/jmedgenet-2020-107626. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910932
131 results