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Stem Cell Research|July 2, 2021
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 geneDi Huang, Dan Zhang, Shang-Chih Chen, et al.
Neuromuscular Disorders : NMD|July 17, 1999
Molecular analysis of a spontaneous dystrophin 'knockout' dogS J Schatzberg, N J Olby, M Breen, et al.
Frontiers in Genetics|April 25, 2022
Single Stranded Fully Modified-Phosphorothioate Oligonucleotides can Induce Structured Nuclear Inclusions, Alter Nuclear Protein Localization and Disturb the Transcriptome In VitroLoren L Flynn, Ruohan Li, Ianthe L Pitout, et al.
Cancer Research|July 28, 2012
MicroRNAs regulate tumor angiogenesis modulated by endothelial progenitor cellsPrue N Plummer, Ruth Freeman, Ryan J Taft, et al.
Ophthalmic Genetics|September 28, 2020
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathyDanial Roshandel, Jennifer A Thompson, Jason Charng, et al.
Stem Cell Research|December 28, 2020
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A geneKhine Zaw, Elaine Y M Wong, Xiao Zhang, et al.
Molecular Genetics & Genomic Medicine|July 7, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defectDi Huang, Jennifer A Thompson, Jason Charng, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 6, 2021
Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutationYifat S Oren, Michal Irony-Tur Sinai, Anita Golec, et al.
Frontiers in Aging Neuroscience|April 12, 2021
Novel Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical PhenotypeFrances Theunissen, Ryan S Anderton, Frank L Mastaglia, et al.
Experimental Eye Research|October 9, 2022
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblastsDi Huang, Jennifer A Thompson, Shang-Chih Chen, et al.
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