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
Analyzing temperature, humidity, and precipitation trends in six regions of Thailand using innovative trend analysis
Kliengchuay, Wissanupong, Mingkhwan, Rachaneekorn, Kiangkoo, Nuttapohn, Suwanmanee, San, Sahanavin, Narut, Kongpran, Jira, Aung, Htoo Wai, Tantrakarnapa, Kraichat
Published in Scientific reports (02.04.2024)
Published in Scientific reports (02.04.2024)
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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
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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Journal Article
Early life exposure to ethinylestradiol enhances subsequent responses to environmental estrogens measured in a novel transgenic zebrafish
Green, Jon M., Lange, Anke, Scott, Aaron, Trznadel, Maciej, Wai, Htoo Aung, Takesono, Aya, Brown, A. Ross, Owen, Stewart F., Kudoh, Tetsuhiro, Tyler, Charles R.
Published in Scientific reports (09.02.2018)
Published in Scientific reports (09.02.2018)
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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
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
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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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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Journal Article
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
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
Comparison of Torque Generated by In-Plane and Out-of-Plane Anisotropic Magnetorheological Elastomers
Htet, Htoo Wai, Cestarollo, Ludovico, EI-Ghazaly, Amal
Published in 2024 IEEE International Magnetic Conference - Short papers (INTERMAG Short papers) (05.05.2024)
Published in 2024 IEEE International Magnetic Conference - Short papers (INTERMAG Short papers) (05.05.2024)
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Conference Proceeding
RNA splicing analysis in genomic medicine
Wai, Htoo, Douglas, Andrew G.L., Baralle, Diana
Published in The international journal of biochemistry & cell biology (01.03.2019)
Published in The international journal of biochemistry & cell biology (01.03.2019)
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Journal Article
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Published in American journal of human genetics (05.03.2020)
Published in American journal of human genetics (05.03.2020)
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Journal Article
Synthesis and Discovery of Estra-1,3,5(10),6,8-pentaene-2,16α-diol
Wai, HtooTint, Du, Kang, Anesini, Jason, Kim, Wan Shin, Eastman, Alan, Micalizio, Glenn C
Published in Organic letters (05.10.2018)
Published in Organic letters (05.10.2018)
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Journal Article
Association of cause-specific hospital admissions with high and low temperatures in Thailand: a nationwide time series studyResearch in context
Bo Wen, Wissanupong Kliengchuay, San Suwanmanee, Htoo Wai Aung, Narut Sahanavin, Weerayut Siriratruengsuk, Sawaeng Kawichai, Benjawan Tawatsupa, Rongbin Xu, Shanshan Li, Yuming Guo, Kraichat Tantrakarnapa
Published in The Lancet regional health. Western Pacific (01.05.2024)
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Published in The Lancet regional health. Western Pacific (01.05.2024)
Journal Article
Association of cause-specific hospital admissions with high and low temperatures in Thailand: a nationwide time series study
Wen, Bo, Kliengchuay, Wissanupong, Suwanmanee, San, Aung, Htoo Wai, Sahanavin, Narut, Siriratruengsuk, Weerayut, Kawichai, Sawaeng, Tawatsupa, Benjawan, Xu, Rongbin, Li, Shanshan, Guo, Yuming, Tantrakarnapa, Kraichat
Published in The Lancet regional health. Western Pacific (01.05.2024)
Published in The Lancet regional health. Western Pacific (01.05.2024)
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Journal Article
The Development and Growth of Tissues Derived from Cranial Neural Crest and Primitive Mesoderm Is Dependent on the Ligation Status of Retinoic Acid Receptor γ: Evidence That Retinoic Acid Receptor γ Functions to Maintain Stem/Progenitor Cells in the Absence of Retinoic Acid
Wai, Htoo Aung, Kawakami, Koichi, Wada, Hironori, Müller, Ferenc, Vernallis, Ann Beatrice, Brown, Geoffrey, Johnson, William Eustace Basil
Published in Stem cells and development (15.02.2015)
Published in Stem cells and development (15.02.2015)
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Journal Article