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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Martin-Geary AC, Blakes AJM, Dawes R, et al. Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease. Genome medicine. 2025;17(1):40. doi:10.1186/s13073-025-01464-2

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

García-Bohórquez B, Barberán-Martínez P, Aller E, et al. Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome. Molecular therapy. Nucleic acids. 2024;35(4):102374. doi:10.1016/j.omtn.2024.102374

piRNA Defense Against Endogenous Retroviruses.

Abajorga M, Yurkovetskiy L, Luban J. piRNA Defense Against Endogenous Retroviruses. Viruses. 2024;16(11). doi:10.3390/v16111756

mA modification of mutant huntingtin RNA promotes the biogenesis of pathogenic huntingtin transcripts.

Pupak A, Rodríguez-Navarro I, Sathasivam K, et al. mA modification of mutant huntingtin RNA promotes the biogenesis of pathogenic huntingtin transcripts. EMBO reports. 2024. doi:10.1038/s44319-024-00283-7

Post-transcriptional splicing can occur in a slow-moving zone around the gene.

Coté A, O’Farrell A, Dardani I, et al. Post-transcriptional splicing can occur in a slow-moving zone around the gene. eLife. 2024;12. doi:10.7554/eLife.91357

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Martin-Geary AC, Blakes AJM, Dawes R, et al. Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.09.12.23295416

Programmable multi-kilobase RNA editing using CRISPR-mediated trans-splicing.

Borrajo J, Javanmardi K, Griffin J, et al. Programmable multi-kilobase RNA editing using CRISPR-mediated trans-splicing. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.18.553620

Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia.

Zhao B, Nguyen MA, Woo S, Kim J, Yu TW, Lee EA. Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. American journal of human genetics. 2023. doi:10.1016/j.ajhg.2023.09.008

iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons.

Held A, Adler M, Marques C, et al. iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons. Cell reports. 2023;42(9):113046. doi:10.1016/j.celrep.2023.113046

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Bogaert E, Garde A, Gautier T, et al. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. American journal of human genetics. 2023;110(5):790-808. doi:10.1016/j.ajhg.2023.03.016