Publicaciones en colaboración con investigadores/as de University College Cork (8)

2023

  1. Molecular and functional correction of a deep intronic splicing mutation in CFTR by CRISPR-Cas9 gene editing

    Molecular Therapy - Methods and Clinical Development, Vol. 31

  2. Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X

    Human molecular genetics, Vol. 32, Núm. 23, pp. 3237-3248

2022

  1. Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation

    Journal of Cystic Fibrosis, Vol. 21, Núm. 1, pp. 181-187

2019

  1. Minigene Assay to Evaluate CRISPR/Cas9-based Excision of Intronic Mutations that Cause Aberrant Splicing in Human Cells

    Bio-protocol, Vol. 9, Núm. 11

2018

  1. Gene Editing of Stem Cells to Model and Treat Disease

    Current Stem Cell Reports, Vol. 4, Núm. 3, pp. 253-263

2017

  1. Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA

    PLoS ONE, Vol. 12, Núm. 9

  2. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18

    PLoS Genetics, Vol. 13, Núm. 3

2016

  1. Impact of gene editing on the study of cystic fibrosis

    Human Genetics, Vol. 135, Núm. 9, pp. 983-992