Assessment of disease-associated missense variants in RYR2 on transcript splicing

by Damilola Olubando, Huw Thomas, Minoru Horie, Raymond T. O’Keefe, Luigi Venetucci, William Newman
Published 2020-06-01

The Role of the U5 snRNP in Genetic Disorders and Cancer

by Katherine A. Wood, Katherine A. Wood, Megan A. Eadsforth, William G. Newman, William G. Newman, Raymond T. O’Keefe
Published 2021-01-01

Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy

by Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman
Published 2021-06-01

Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and in trans effects on the protein regulatory network.

by Laura Natalia Balarezo-Cisneros, Steven Parker, Marcin G Fraczek, Soukaina Timouma, Ping Wang, Raymond T O'Keefe, Catherine B Millar, Daniela Delneri
Published 2021-01-01

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

by Katherine A Wood, Charlie F Rowlands, Huw B Thomas, Steven Woods, Julieta O'Flaherty, Sofia Douzgou, Susan J Kimber, William G Newman, Raymond T O'Keefe
Published 2020-01-01

Large-scale profiling of noncoding RNA function in yeast.

by Steven Parker, Marcin G Fraczek, Jian Wu, Sara Shamsah, Alkisti Manousaki, Kobchai Dungrattanalert, Rogerio Alves de Almeida, Edith Invernizzi, Tim Burgis, Walid Omara, Sam Griffiths-Jones, Daniela Delneri, Raymond T O'Keefe
Published 2018-03-01