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

Authors: 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

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-19 (2024)

Subject Terms: RNA-seq, Rare disease, Diagnostics, Splicing, Expression, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/45132a90469347a28af8c2c77be166ff

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders

Authors: Htoo A. Wai, Eliska Svobodova, Natalia Romero Herrera, Andrew G. L. Douglas, John W. Holloway, Francisco E. Baralle, Marco Baralle, Diana Baralle

Source: Experimental and Molecular Medicine, Vol 56, Iss 8, Pp 1816-1825 (2024)

Subject Terms: Medicine, Biochemistry, QD415-436

File Description: electronic resource

Relation: https://doaj.org/toc/2092-6413

Access URL: https://doaj.org/article/68cbfaef62044777968f0b7d27f4a829

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

Authors: Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord

Source: Genome Medicine, Vol 14, Iss 1, Pp 1-11 (2022)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/dfdeeb798f424c30af5b1c761fbdb704

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

Authors: Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/cff014b62747418fa2af4029a4e249c3

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Authors: William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle

Source: Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)

Subject Terms: COPB1, COPI, β-COP, Microcephaly, Cataract, Xenopus model, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/80c8d687a6984db2bccd3da2c3505ebc

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

Authors: Jelmer Legebeke, Katie L. Horton, Claire L. Jackson, Janice Coles, Amanda Harris, Htoo A. Wai, John W. Holloway, Gabrielle Wheway, Diana Baralle, Jane S. Lucas

Source: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

Subject Terms: primary nasal epithelium, air-liquid interface culture, airway cilia, physiological analysis, whole transcriptome analysis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.907511/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/a2b10b129499446894bc09b1f234580b

Systematic review and meta-analysis: Is lifestyle modification effective for glycemic control among adults with type II diabetes in Southeast Asia?

Authors: Htoo, Zaw Wai, Hsu, Wei-Wen, Rosenkranz, Richard

Source: In Diabetes Research and Clinical Practice December 2016 122:148-153

Early life exposure to ethinylestradiol enhances subsequent responses to environmental estrogens measured in a novel transgenic zebrafish

Authors: Jon M. Green, Anke Lange, Aaron Scott, Maciej Trznadel, Htoo Aung Wai, Aya Takesono, A. Ross Brown, Stewart F. Owen, Tetsuhiro Kudoh, Charles R. Tyler

Source: Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/ef7241818e8642a0b0aef1a15524e029