Search Results - Wai, Htoo A.

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  1. 1
    Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia

    Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia by 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 2022
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  2. 2
    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

    Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for cl... by 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 2022
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  3. 3
    Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

    Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance by 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 2020
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  4. 4
    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 by 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 2020
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  5. 5
    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

    Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly by 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 2021
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  6. 6
    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 by 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 2022
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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 by 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 2021
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