Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders by Wai, HA, Svobodova, E, Herrera, NR, Douglas, AGL, Holloway, JW, Baralle, FE, Baralle, M, Baralle, D

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach by Jaramillo Oquendo, C, Wai, HA, Rich, WI, Bunyan, DJ, Thomas, NS, Hunt, D, Lord, J, Douglas, AGL, Baralle, D

C9ORF72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia by Manzano, R, Aoki, Y, Lee, Y, Nca, RD, Aoki, M, Douglas, AGL, Varela, MA, Sathyaprakash, C, Scaber, J, Barbagallo, P, Vader, P, Mager, I, Ezzat, K, Turner, MR, Ito, N, Gasco, S, Ohbayashi, N, El Andaloussi, S, Taked, S, Fukuda, M, Talbot, K, Wood, MJA