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Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J, Oquendo CJ, Wai HA, Douglas AGL, Bunyan DJ, Wang Y, Hu Z, Zeng Z, Danis D, Katsonis P, Williams A, Lichtarge O, Chang Y, Bagnall RD, Mount SM, Matthiasardottir B, Lin C, Hansen TVO, Leman R, Martins A, Houdayer C, Krieger S, Bakolitsa C, Peng Y, Kamandula A, Radivojac P, Baralle D. Lord J, et al. Among authors: bagnall rd. Hum Genet. 2025 Mar;144(2-3):243-251. doi: 10.1007/s00439-023-02624-3. Epub 2024 Jan 3. Hum Genet. 2025. PMID: 38170232 Free PMC article.
Splicing Functional Assays Into the Genetic Testing Pipeline.
Singer ES, Bagnall RD. Singer ES, et al. Among authors: bagnall rd. Circ Genom Precis Med. 2022 Dec;15(6):e003949. doi: 10.1161/CIRCGEN.122.003949. Epub 2022 Nov 9. Circ Genom Precis Med. 2022. PMID: 36350765 No abstract available.
Transcription Factors Leave Their Mark on the Heart.
Chang Y, Francois M, Bagnall RD. Chang Y, et al. Among authors: bagnall rd. Circ Genom Precis Med. 2024 Apr;17(2):e004598. doi: 10.1161/CIRCGEN.124.004598. Epub 2024 Mar 18. Circ Genom Precis Med. 2024. PMID: 38497209 No abstract available.
121 results