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Genes|February 2, 2018
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone SyndromeKarin W Littink, Patricia T Y Stappers, Frans C C Riemslag, et al.Genes|March 10, 2018
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68Karin W Littink, Patricia T Y Stappers, Frans C C Riemslag, et al.Cells|January 21, 2023
PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary CiliaSiebren Faber, Stef J F Letteboer, Katrin Junger, et al.Acta Neuropathologica Communications|February 11, 2025
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoidsDimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, et al.Cells|April 12, 2024
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt DiseaseNuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten, et al.Genome Research|November 23, 2017
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt diseaseRiccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, et al.Progress in Retinal and Eye Research|July 8, 2021
Approaches for corneal endothelium regenerative medicinePere Català, Gilles Thuret, Heli Skottman, et al.Plos One|February 15, 2019
Reproductive characteristics modify the association between global DNA methylation and breast cancer risk in a population-based sample of womenLindsay J Collin, Lauren E McCullough, Kathleen Conway, et al.Progress in Retinal and Eye Research|March 30, 2018
Non-syndromic retinitis pigmentosaSanne K Verbakel, Ramon A C van Huet, Camiel J F Boon, et al.Journal of Molecular Medicine (Berlin, Germany)|January 11, 2007
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4E Kalay, R Caylan, A F Kiroglu, et al.Pageof 78