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Frontiers in Cell and Developmental Biology|March 30, 2023
Disruption of the foxe1 gene in zebrafish reveals conserved functions in development of the craniofacial skeleton and the thyroidSophie T Raterman, Johannes W Von Den Hoff, Sietske Dijkstra, et al.Human Molecular Genetics|January 31, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related diseaseMaria Toms, Adam M Dubis, Erik de Vrieze, et al.Human Molecular Genetics|December 23, 2017
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosaMonika Weisz Hubshman, Sanne Broekman, Erwin van Wijk, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|April 26, 2022
Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28Ailís L Moran, Stephen P Carter, Joanna J Kaylor, et al.Molecular Therapy. Nucleic Acids|December 4, 2024
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndromeBelén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, et al.Experimental Eye Research|May 20, 2018
Usherin defects lead to early-onset retinal dysfunction in zebrafishMargo Dona, Ralph Slijkerman, Kimberly Lerner, et al.Communications Biology|June 4, 2021
Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafishWim H Quint, Kirke C D Tadema, Erik de Vrieze, et al.Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|April 25, 2021
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutationsKalyan Dulla, Ralph Slijkerman, Hester C van Diepen, et al.NPJ Genomic Medicine|June 7, 2022
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variantJanine Reurink, Erik de Vrieze, Catherina H Z Li, et al.Pageof 3