Non-coding RNAs and disease: the classical ncRNAs make a comeback
de Almeida, Rogerio Alves, Fraczek, Marcin G, Parker, Steven, Delneri, Daniela, O'Keefe, Raymond T
Published in Biochemical Society transactions (15.08.2016)
Published in Biochemical Society transactions (15.08.2016)
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Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
Wood, Katherine A, Rowlands, Charlie F, Thomas, Huw B, Woods, Steven, O'Flaherty, Julieta, Douzgou, Sofia, Kimber, Susan J, Newman, William G, O'Keefe, Raymond T
Published in PloS one (31.07.2020)
Published in PloS one (31.07.2020)
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Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and in trans effects on the protein regulatory network
Balarezo-Cisneros, Laura Natalia, Parker, Steven, Fraczek, Marcin G, Timouma, Soukaina, Wang, Ping, O'Keefe, Raymond T, Millar, Catherine B, Delneri, Daniela
Published in PLoS genetics (25.01.2021)
Published in PLoS genetics (25.01.2021)
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The Role of the U5 snRNP in Genetic Disorders and Cancer
Wood, Katherine A, Eadsforth, Megan A, Newman, William G, O'Keefe, Raymond T
Published in Frontiers in genetics (28.01.2021)
Published in Frontiers in genetics (28.01.2021)
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A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
Jayadev, Ranjay, Morais, Mychel R P T, Ellingford, Jamie M, Srinivasan, Sandhya, Naylor, Richard W, Lawless, Craig, Li, Anna S, Ingham, Jack F, Hastie, Eric, Chi, Qiuyi, Fresquet, Maryline, Koudis, Nikki-Maria, Thomas, Huw B, O'Keefe, Raymond T, Williams, Emily, Adamson, Antony, Stuart, Helen M, Banka, Siddharth, Smedley, Damian, Sherwood, David R, Lennon, Rachel
Published in Science advances (20.05.2022)
Published in Science advances (20.05.2022)
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Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Smith, Thomas B, Rea, Alessandro, Thomas, Huw B, Thompson, Kyle, Oláhová, Monika, Maroofian, Reza, Zamani, Mina, He, Langping, Sadeghian, Saeid, Galehdari, Hamid, Lotan, Nava Shaul, Gilboa, Tal, Herman, Kristin C, McCorvie, Thomas J, Yue, Wyatt W, Houlden, Henry, Taylor, Robert W, Newman, William G, O'Keefe, Raymond T
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
Rowlands, Charlie F., Taylor, Algy, Rice, Gillian, Whiffin, Nicola, Hall, Hildegard Nikki, Newman, William G., Black, Graeme C.M., O’Keefe, Raymond T., Hubbard, Simon, Douglas, Andrew G.L., Baralle, Diana, Briggs, Tracy A., Ellingford, Jamie M.
Published in American journal of human genetics (03.02.2022)
Published in American journal of human genetics (03.02.2022)
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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
Badrock, Andrew P., Uggenti, Carolina, Wacheul, Ludivine, Crilly, Siobhan, Jenkinson, Emma M., Rice, Gillian I., Kasher, Paul R., Lafontaine, Denis L.J., Crow, Yanick J., O’Keefe, Raymond T.
Published in American journal of human genetics (07.05.2020)
Published in American journal of human genetics (07.05.2020)
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Large-scale profiling of noncoding RNA function in yeast
Parker, Steven, Fraczek, Marcin G, Wu, Jian, Shamsah, Sara, Manousaki, Alkisti, Dungrattanalert, Kobchai, de Almeida, Rogerio Alves, Invernizzi, Edith, Burgis, Tim, Omara, Walid, Griffiths-Jones, Sam, Delneri, Daniela, O'Keefe, Raymond T
Published in PLoS genetics (12.03.2018)
Published in PLoS genetics (12.03.2018)
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Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney
Eales, James M, Jiang, Xiao, Xu, Xiaoguang, Saluja, Sushant, Akbarov, Artur, Cano-Gamez, Eddie, McNulty, Michelle T, Finan, Christopher, Guo, Hui, Wystrychowski, Wojciech, Szulinska, Monika, Thomas, Huw B, Pramanik, Sanjeev, Chopade, Sandesh, Prestes, Priscilla R, Wise, Ingrid, Evangelou, Evangelos, Salehi, Mahan, Shakanti, Yusif, Ekholm, Mikael, Denniff, Matthew, Nazgiewicz, Alicja, Eichinger, Felix, Godfrey, Bradley, Antczak, Andrzej, Glyda, Maciej, Król, Robert, Eyre, Stephen, Brown, Jason, Berzuini, Carlo, Bowes, John, Caulfield, Mark, Zukowska-Szczechowska, Ewa, Zywiec, Joanna, Bogdanski, Pawel, Kretzler, Matthias, Woolf, Adrian S, Talavera, David, Keavney, Bernard, Maffia, Pasquale, Guzik, Tomasz J, O'Keefe, Raymond T, Trynka, Gosia, Samani, Nilesh J, Hingorani, Aroon, Sampson, Matthew G, Morris, Andrew P, Charchar, Fadi J, Tomaszewski, Maciej
Published in Nature genetics (01.05.2021)
Published in Nature genetics (01.05.2021)
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Disease modeling of core pre-mRNA splicing factor haploinsufficiency
Wood, Katherine A, Rowlands, Charlie F, Qureshi, Wasay Mohiuddin Shaikh, Thomas, Huw B, Buczek, Weronika A, Briggs, Tracy A, Hubbard, Simon J, Hentges, Kathryn E, Newman, William G, O’Keefe, Raymond T
Published in Human molecular genetics (15.11.2019)
Published in Human molecular genetics (15.11.2019)
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Non-coding RNAs in Saccharomyces cerevisiae: what is the function?
Wu, Jian, Delneri, Daniela, O'Keefe, Raymond T
Published in Biochemical Society transactions (01.08.2012)
Published in Biochemical Society transactions (01.08.2012)
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Splint ligation of RNA with T4 DNA ligase
Kershaw, Christopher J, O'Keefe, Raymond T
Published in Methods in molecular biology (Clifton, N.J.) (2012)
Published in Methods in molecular biology (Clifton, N.J.) (2012)
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Eisosome disruption by noncoding RNA deletion increases protein secretion in yeast
Feng, Matthew Wenjie, Delneri, Daniela, Millar, Catherine B, O'Keefe, Raymond T
Published in PNAS nexus (01.11.2022)
Published in PNAS nexus (01.11.2022)
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G., Bhaskar, Sanjeev S., Urquhart, Jill E., Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R., Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas, Burn, John, Lüdecke, Hermann-Josef, Strom, Tim M.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy
Wood, Katherine A., Ellingford, Jamie M., Eden, James, Thomas, Huw B., O’Keefe, Raymond T., Hopton, Claire, Newman, William G.
Published in Cardiogenetics (01.06.2021)
Published in Cardiogenetics (01.06.2021)
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