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Human Molecular Genetics|April 4, 2008
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)Lawrence C S Tam, Anna-Sophia Kiang, Avril Kennan, et al.
American Journal of Human Genetics|June 15, 2007
RNA interference-mediated suppression and replacement of human rhodopsin in vivoMary O'Reilly, Arpad Palfi, Naomi Chadderton, et al.
Genes|January 25, 2025
Novel Splice-Altering Variants in the <i>CHM</i> and <i>CACNA1F</i> Genes Causative of X-Linked Choroideremia and Cone DystrophyAnna R Ridgeway, Ciara Shortall, Laura K Finnegan, et al.
Journal of Neurochemistry|December 17, 2009
AAV-mediated chronic over-expression of SNAP-25 in adult rat dorsal hippocampus impairs memory-associated synaptic plasticityAlex G McKee, Jennifer S Loscher, Niamh C O'Sullivan, et al.
Genetics in Medicine Open|July 6, 2026
The landscape of variants in pre-mRNA-processing factor genes in an Irish cohortLaura K Finnegan, Anna R Ridgeway, Matthew Carrigan, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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