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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Journal Article
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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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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Journal Article
Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia
Legebeke, Jelmer, Horton, Katie L., Jackson, Claire L., Coles, Janice, Harris, Amanda, Wai, Htoo A., Holloway, John W., Wheway, Gabrielle, Baralle, Diana, Lucas, Jane S.
Published in Frontiers in cell and developmental biology (15.06.2022)
Published in Frontiers in cell and developmental biology (15.06.2022)
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Journal Article
Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants
Lord, Jenny, Oquendo, Carolina J., Wai, Htoo A., Holloway, John G., Martin-Geary, Alexandra, Blakes, Alexander JM, Arciero, Elena, Domcke, Silvia, Childs, Anne-Marie, Low, Karen, Rankin, Julia, Baralle, Diana, Martin, Hilary C., Whiffin, Nicola
Published in Genetics in medicine (03.09.2024)
Published in Genetics in medicine (03.09.2024)
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Journal Article
Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis
Wai, Htoo A., Constable, Matthew, Drewes, Cosima, Davies, Ian C., Svobodova, Eliska, Dempsey, Esther, Saggar, Anand, Homfray, Tessa, Mansour, Sahar, Douzgou, Sofia, Barr, Kate, Mercer, Catherine, Hunt, David, Douglas, Andrew G. L., Baralle, Diana
Published in Human mutation (01.07.2022)
Published in Human mutation (01.07.2022)
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Journal Article
Predicting the impact of rare variants on RNA splicing in CAGI6
Lord, Jenny, Oquendo, Carolina Jaramillo, Wai, Htoo A, Douglas, Andrew G L, Bunyan, David J, Wang, Yaqiong, Hu, Zhiqiang, Zeng, Zishuo, Danis, Daniel, Katsonis, Panagiotis, Williams, Amanda, Lichtarge, Olivier, Chang, Yuchen, Bagnall, Richard D, Mount, Stephen M, Matthiasardottir, Brynja, Lin, Chiaofeng, Hansen, Thomas van Overeem, Leman, Raphael, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie, Bakolitsa, Constantina, Peng, Yisu, Kamandula, Akash, Radivojac, Predrag, Baralle, Diana
Published in Human genetics (03.01.2024)
Published in Human genetics (03.01.2024)
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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
Gazdagh, Gabriella, Hunt, David, Gonzalez, Anna Maria Cueto, Rodriguez, Monserrat Pons, Chaudhry, Ayeshah, Madruga, Marcos, Vansenne, Fleur, Shears, Deborah, Curie, Aurore, Stattin, Eva‐Lena, Anderlid, Britt‐Marie, Trajkova, Slavica, Angelovska, Elena Sukarova, McWilliam, Catherine, Wyatt, Philip R., O'Driscoll, Mary, Atton, Giles, Bergman, Anke K., Zacher, Pia, Mewasingh, Leena D., López, Antonio Gonzalez‐Meneses, Alonso‐Luengo, Olga, Wai, Htoo A., Rohde, Ottilie, Boiroux, Pauline, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Published in American journal of medical genetics. Part A (01.07.2023)
Published in American journal of medical genetics. Part A (01.07.2023)
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Journal Article
Correction: 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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Journal Article
Blood RNA analysis can increase clinical diagnostic rate andresolve 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, Simon, Thomas N, Bunyan, David J, Douglas Andrew G L, Baralle Diana, Naik Swati, Ragge Nicola, Cox, Helen, Morton, Jenny, O’Driscoll Mary, Lim, Derek, Osio Deborah, Elmslie, Frances, Huber, Camilla, Hewitt, Julie, Brandon Heidy, McEntagart Meriel, Mansour Sahar, Lahiri Nayana, Dempsey, Esther, Manalo Merrie, Homfray Tessa, Saggar Anand, Li, Jin, Barwell, Julian, Chandler, Kate, Briggs, Tracy, Douzgou Sofia, Adlard Julian, Kraus, Alison, Mehta Sarju, Watford, Amy, Donaldson, Alan, Low, Karen, Jones, Gabriela, Dixit Abhijit, King, Elizabeth, Shannon, Nora, Kaliakatsos Marios, Joss Shelagh, Balasubramanian Meena, Johnson, Diana, Everest, Sarah, Salter, Claire, Harrison, Victoria, Wise, Gillian, Torokwa Audrey, Sands, Victoria, Pyle, Esther, Tessy, Thomas, Lachlan, Katherine, Foulds, Nicola, Lotery, Andrew, Douglas, Andrew, Hammans Simon, Pond, Emily, Horton, Rachel, Kharbanda Mira, Hunt, David, Thomas, Charlene, Side Lucy, Willis, Catherine, Greville-Heygate Stephanie, Mawby, Rebecca, Mercer, Catherine, Temple, Karen, Kinning Esther, Bojovic Ognjen, Archer, L
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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