Canlyniadau Chwilio - Htoo A. Wai

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  1. 1
    Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

    Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach gan Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle

    Cyhoeddwyd 2024
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  2. 2
    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance gan Htoo A. Wai, Jenny Lord, Matthew Lyon, Adam C. Gunning, Hugh Kelly, Penelope Cibin, Eleanor G. Seaby, Kerry Spiers-Fitzgerald, Jed J. Lye, Sian Ellard, N. Simon Thomas, David J. Bunyan, Andrew G. L. Douglas, Diana Baralle

    Cyhoeddwyd 2020
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  3. 3
    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project gan Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord

    Cyhoeddwyd 2022
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  4. 4
    Predicting the impact of rare variants on RNA splicing in CAGI6

    Predicting the impact of rare variants on RNA splicing in CAGI6 gan Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G. L. Douglas, David J. Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Daniš, Panagiotis Katsonis, Amanda M. Williams, Olivier Lichtarge, Yu‐Chen Chang, Richard D. Bagnall, Stephen M. Mount, Brynja Matthiasardottir, Chiao‐Feng Lin, Thomas van Overeem Hansen, Raphaël Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, Diana Baralle

    Cyhoeddwyd 2024
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  5. 5
    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

    Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders gan Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto‐Kaufmann, Andrey V. Kajava, Damien Laouteouet, Rebecca Mawby, Htoo A. Wai, Alexander J.M. Dingemans, Jayne Y. Hehir‐Kwa, Marjorlaine Willems, Yline Capri, Sarju Mehta, Helen Cox, David Goudie, Fleur Vansenne, Peter D. Turnpenny, Marie Vincent, Benjamin Cogné, Gaëtan Lesca, Jozef Hertecant, Diana Rodriguez, Boris Keren, Lydie Bürglen, Marion Gérard, Audrey Putoux, Vincent Cantagrel, Karine Siquier-Pernet, Marlène Rio, Siddharth Banka, Ajoy Sarkar, Marcie Steeves, Michael Parker, Emma Clement, Sébastien Moutton, Frédéric Tran Mau‐Them, Amélie Piton, Bert B.A. de Vries, Matthew Guille, Anne Debant, Susanne Schmidt, Diana Baralle

    Cyhoeddwyd 2020
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  6. 6
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome gan Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    Cyhoeddwyd 2025
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  7. 7
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders gan Charlie F Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda M. Beaman, Panagiotis I. Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth A. Jones, Jill Clayton‐Smith, Andrew R. Webster, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, K. Witkowsa, S. M. Wood, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme Black, Jamie M. Ellingford

    Cyhoeddwyd 2021
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