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Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.
Arzalluz-Luque Á, Cabrera JL, Skottman H, Benguria A, Bolinches-Amorós A, Cuenca N, Lupo V, Dopazo A, Tarazona S, Delás B, Carballo M, Pascual B, Hernan I, Erceg S, Lukovic D. Arzalluz-Luque Á, et al. Front Neurosci. 2021 Apr 29;15:636969. doi: 10.3389/fnins.2021.636969. eCollection 2021. Front Neurosci. 2021. PMID: 33994920 Free PMC article.
tappAS: a comprehensive computational framework for the analysis of the functional impact of differential splicing.
de la Fuente L, Arzalluz-Luque Á, Tardáguila M, Del Risco H, Martí C, Tarazona S, Salguero P, Scott R, Lerma A, Alastrue-Agudo A, Bonilla P, Newman JRB, Kosugi S, McIntyre LM, Moreno-Manzano V, Conesa A. de la Fuente L, et al. Among authors: arzalluz luque a. Genome Biol. 2020 May 18;21(1):119. doi: 10.1186/s13059-020-02028-w. Genome Biol. 2020. PMID: 32423416 Free PMC article.
SQANTI3: curation of long-read transcriptomes for accurate identification of known and novel isoforms.
Pardo-Palacios FJ, Arzalluz-Luque A, Kondratova L, Salguero P, Mestre-Tomás J, Amorín R, Estevan-Morió E, Liu T, Nanni A, McIntyre L, Tseng E, Conesa A. Pardo-Palacios FJ, et al. Among authors: arzalluz luque a. bioRxiv [Preprint]. 2023 Jun 3:2023.05.17.541248. doi: 10.1101/2023.05.17.541248. bioRxiv. 2023. PMID: 37398077 Free PMC article. Preprint.