Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Authors: Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)

Subject Terms: 5’untranslated region (5’UTR), Upstream open reading frame (uORF), Non-coding variation, Whole genome sequencing (WGS), Whole exome sequencing (WES), In silico prioritization, Medicine, Genetics, QH426-470

File Description: electronic resource

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

Access URL: https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

Authors: Katherine A Wood, Charlie F Rowlands, Huw B Thomas, Steven Woods, Julieta O'Flaherty, Sofia Douzgou, Susan J Kimber, William G Newman, Raymond T O'Keefe

Source: PLoS ONE, Vol 15, Iss 7, p e0233582 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/c678571fe6ac444081dd9b958bc2912b

Whose Gene Is It Anyway? The Effect of Preparation Purity on Neutrophil Transcriptome Studies.

Authors: Huw B Thomas, Robert J Moots, Steven W Edwards, Helen L Wright

Source: PLoS ONE, Vol 10, Iss 9, p e0138982 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4581699?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/91b189a16788464bbe8b6b95900a4093

RNA-seq reveals activation of both common and cytokine-specific pathways following neutrophil priming.

Authors: Helen L Wright, Huw B Thomas, Robert J Moots, Steven W Edwards

Source: PLoS ONE, Vol 8, Iss 3, p e58598 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3590155?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/113a1d8e066b41429913a76c50b549d9

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

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy

Authors: Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman

Source: Cardiogenetics, Vol 11, Iss 2, Pp 73-83 (2021)

Subject Terms: hypertrophic cardiomyopathy, MYBPC3, splice variants, minigene assays, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://www.mdpi.com/2035-8148/11/2/9; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

Access URL: https://doaj.org/article/5c46b773a2b144039d74397e5dc7663c

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

Authors: J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman

Source: Kidney International Reports, Vol 5, Iss 10, Pp 1823-1827 (2020)

Subject Terms: Diseases of the genitourinary system. Urology, RC870-923

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024920313644; https://doaj.org/toc/2468-0249

Access URL: https://doaj.org/article/61fa727ff6fc45e5a26768306ca2daf2