A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection
Blume, Cornelia, Jackson, Claire L., Spalluto, Cosma Mirella, Legebeke, Jelmer, Nazlamova, Liliya, Conforti, Franco, Perotin, Jeanne-Marie, Frank, Martin, Butler, John, Crispin, Max, Coles, Janice, Thompson, James, Ridley, Robert A., Dean, Lareb S. N., Loxham, Matthew, Reikine, Stephanie, Azim, Adnan, Tariq, Kamran, Johnston, David A., Skipp, Paul J., Djukanovic, Ratko, Baralle, Diana, McCormick, Christopher J., Davies, Donna E., Lucas, Jane S., Wheway, Gabrielle, Mennella, Vito
Published in Nature genetics (01.02.2021)
Published in Nature genetics (01.02.2021)
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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Ellingford, Jamie M, Ahn, Joo Wook, Bagnall, Richard D, Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R, Greally, John M, Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C, Newman, William G, O'Donnell-Luria, Anne, Ramsden, Simon C, Rehm, Heidi L, Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C, Williams, Maggie, Wood, Jordan C, Wright, Caroline F, Harrison, Steven M, Whiffin, Nicola
Published in Genome medicine (19.07.2022)
Published in Genome medicine (19.07.2022)
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Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders
Wai, Htoo A., Svobodova, Eliska, Herrera, Natalia Romero, Douglas, Andrew G. L., Holloway, John W., Baralle, Francisco E., Baralle, Marco, Baralle, Diana
Published in Experimental & molecular medicine (01.08.2024)
Published in Experimental & molecular medicine (01.08.2024)
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Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
Rowlands, Charlie F, Baralle, Diana, Ellingford, Jamie M
Published in Cells (Basel, Switzerland) (26.11.2019)
Published in Cells (Basel, Switzerland) (26.11.2019)
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Rowlands, Charlie, Thomas, Huw B., Lord, Jenny, Wai, Htoo A., Arno, Gavin, Beaman, Glenda, Sergouniotis, Panagiotis, Gomes-Silva, Beatriz, Campbell, Christopher, Gossan, Nicole, Hardcastle, Claire, Webb, Kevin, O’Callaghan, Christopher, Hirst, Robert A., Ramsden, Simon, Jones, Elizabeth, Clayton-Smith, Jill, Webster, Andrew R., Douglas, Andrew G. L., O’Keefe, Raymond T., Newman, William G., Baralle, Diana, Black, Graeme C. M., Ellingford, Jamie M.
Published in Scientific reports (18.10.2021)
Published in Scientific reports (18.10.2021)
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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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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
Norman, Chelsea S., O’Gorman, Luke, Gibson, Jane, Pengelly, Reuben J., Baralle, Diana, Ratnayaka, J. Arjuna, Griffiths, Helen, Rose-Zerilli, Matthew, Ranger, Megan, Bunyan, David, Lee, Helena, Page, Rhiannon, Newall, Tutte, Shawkat, Fatima, Mattocks, Christopher, Ward, Daniel, Ennis, Sarah, Self, Jay E.
Published in Scientific reports (30.06.2017)
Published in Scientific reports (30.06.2017)
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Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
Jaramillo Oquendo, Carolina, Wai, Htoo A, Rich, Wil I, Bunyan, David J, Thomas, N Simon, Hunt, David, Lord, Jenny, Douglas, Andrew G L, Baralle, Diana
Published in Genome medicine (09.09.2024)
Published in Genome medicine (09.09.2024)
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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
Blakes, Alexander J M, Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M, Bicknell, Louise S, Jackson, Meremaihi R, Wade, Emma M, Robertson, Stephen, White, Susan M, Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G L
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
Macken, William L, Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A, Self, Jay, Douglas, Andrew G L, Kao, Alexander P, Guille, Matthew, Baralle, Diana
Published in Genome medicine (25.02.2021)
Published in Genome medicine (25.02.2021)
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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Published in Genome medicine (26.07.2022)
Published in Genome medicine (26.07.2022)
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A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping
O’Gorman, Luke, Norman, Chelsea S., Michaels, Luke, Newall, Tutte, Crosby, Andrew H., Mattocks, Christopher, Cree, Angela J., Lotery, Andrew J., Baple, Emma L., Ratnayaka, J. Arjuna, Baralle, Diana, Lee, Helena, Osborne, Daniel, Shawkat, Fatima, Gibson, Jane, Ennis, Sarah, Self, Jay E.
Published in Scientific reports (13.09.2019)
Published in Scientific reports (13.09.2019)
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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
Corry, Peter, Lizarraga, Sophia, Leal, Gabriella F, Bennett, Christopher, Rashid, Yasmin, Roberts, Emma, Jafri, Hussain, Raponi, Michela, Walsh, Christopher A, Springell, Kelly, Morrison, Ewan E, Costa, Suzana M R, Hampshire, Daniel J, Baralle, Diana, Woods, C Geoffrey, Scott, Sheila, Higgins, Julie, Bond, Jacquelyn, Karbani, Gulshan, Silva, Elias O
Published in Nature genetics (01.04.2005)
Published in Nature genetics (01.04.2005)
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Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19
Penrice-Randal, Rebekah, Dong, Xiaofeng, Shapanis, Andrew George, Gardner, Aaron, Harding, Nicholas, Legebeke, Jelmer, Lord, Jenny, Vallejo, Andres F., Poole, Stephen, Brendish, Nathan J., Hartley, Catherine, Williams, Anthony P., Wheway, Gabrielle, Polak, Marta E., Strazzeri, Fabio, Schofield, James P. R., Skipp, Paul J., Hiscox, Julian A., Clark, Tristan W., Baralle, Diana
Published in Frontiers in immunology (20.09.2022)
Published in Frontiers in immunology (20.09.2022)
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Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19
Legebeke, Jelmer, Lord, Jenny, Penrice-Randal, Rebekah, Vallejo, Andres F, Poole, Stephen, Brendish, Nathan J, Dong, Xiaofeng, Hartley, Catherine, Holloway, John W, Lucas, Jane S, Williams, Anthony P, Wheway, Gabrielle, Strazzeri, Fabio, Gardner, Aaron, Schofield, James P R, Skipp, Paul J, Hiscox, Julian A, Polak, Marta E, Clark, Tristan W, Baralle, Diana
Published in Frontiers in immunology (19.05.2022)
Published in Frontiers in immunology (19.05.2022)
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