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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99747-2
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.;
- Genomics England Research Consortium;
- Ambrose, J. C.
Publication type:
Article
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Published in:
2022
By:
- Banka, Siddharth;
- Shalev, Stavit;
- Park, Soo-Mi;
- Wood, Katherine A;
- Thomas, Huw B;
- Wright, Helen L;
- Alyahya, Mohammed;
- Bankier, Sean;
- Alimi, Ola;
- Chervinsky, Elena;
- Zeef, Leo A H;
- O'Keefe, Raymond T
Publication type:
journal article
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy.
Published in:
Cardiogenetics, 2021, v. 11, n. 2, p. 73, doi. 10.3390/cardiogenetics11020009
By:
- Wood, Katherine A.;
- Ellingford, Jamie M.;
- Eden, James;
- Thomas, Huw B.;
- O'Keefe, Raymond T.;
- Hopton, Claire;
- Newman, William G.
Publication type:
Article
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01277-1
By:
- Dueñas Rey, Alfredo;
- del Pozo Valero, Marta;
- Bouckaert, Manon;
- Wood, Katherine A;
- Van den Broeck, Filip;
- Varela, Malena Daich;
- Thomas, Huw B;
- Van Heetvelde, Mattias;
- De Bruyne, Marieke;
- Van de Sompele, Stijn;
- Bauwens, Miriam;
- Lenaerts, Hanne;
- Mahieu, Quinten;
- Josifova, Dragana;
- Rivolta, Carlo;
- O'Keefe, Raymond T;
- Ellingford, Jamie;
- Webster, Andrew R;
- Arno, Gavin;
- Ayuso, Carmen
Publication type:
Article
Whose Gene Is It Anyway? The Effect of Preparation Purity on Neutrophil Transcriptome Studies.
Published in:
PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138982
By:
- Thomas, Huw B.;
- Moots, Robert J.;
- Edwards, Steven W.;
- Wright, Helen L.
Publication type:
Article
RNA-Seq Reveals Activation of Both Common and Cytokine-Specific Pathways following Neutrophil Priming.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058598
By:
- Wright, Helen L.;
- Thomas, Huw B.;
- Moots, Robert J.;
- Edwards, Steven W.
Publication type:
Article
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Published in:
PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0233582
By:
- Wood, Katherine A.;
- Rowlands, Charlie F.;
- Thomas, Huw B.;
- Woods, Steven;
- O'Flaherty, Julieta;
- Douzgou, Sofia;
- Kimber, Susan J.;
- Newman, William G.;
- O'Keefe, Raymond T.
Publication type:
Article
Interferon gene expression signature in rheumatoid arthritis neutrophils correlates with a good response to TNFi therapy.
Published in:
2015
By:
- Wright, Helen L.;
- Thomas, Huw B.;
- Moots, Robert J.;
- Edwards, Steven W.
Publication type:
Journal Article
Interferon gene expression signature in rheumatoid arthritis neutrophils correlates with a good response to TNFi therapy.
Published in:
Rheumatology, 2015, v. 54, n. 1, p. 188, doi. 10.1093/rheumatology/keu299
By:
- Wright, Helen L.;
- Thomas, Huw B.;
- Moots, Robert J.;
- Edwards, Steven W.
Publication type:
Article
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 255, doi. 10.1111/cge.14082
By:
- Wood, Katherine A.;
- Ellingford, Jamie M.;
- Thomas, Huw B.;
- Douzgou, Sofia;
- Beaman, Glenda M.;
- Hobson, Emma;
- Prescott, Katrina;
- O'Keefe, Raymond T.;
- Newman, William G.
Publication type:
Article
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
Published in:
Clinical Genetics, 2019, v. 96, n. 6, p. 515, doi. 10.1111/cge.13631
By:
- Beaman, Glenda M.;
- Galatà, Gabriella;
- Teik, Keng W.;
- Urquhart, Jill E.;
- Aishah, Ali;
- O'Sullivan, James;
- Bhaskar, Sanjeev S.;
- Wood, Katherine A.;
- Thomas, Huw B.;
- O'Keefe, Raymond T.;
- Woolf, Adrian S.;
- Stuart, Helen M.;
- Newman, William G.
Publication type:
Article
Differential changes in gene expression in human neutrophils following TNF-α stimulation: Up-regulation of anti-apoptotic proteins and down-regulation of proteins involved in death receptor signaling.
Published in:
Immunity, Inflammation & Disease, 2016, v. 4, n. 1, p. 35, doi. 10.1002/iid3.90
By:
- Chiewchengchol, Direkrit;
- Wright, Helen L.;
- Thomas, Huw B.;
- Lam, Connie W.;
- Roberts, Kate J.;
- Hirankarn, Nattiya;
- Beresford, Michael W.;
- Moots, Robert J.;
- Edwards, Steven W.
Publication type:
Article
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169
By:
- Wood, Katherine A;
- Rowlands, Charlie F;
- Qureshi, Wasay Mohiuddin Shaikh;
- Thomas, Huw B;
- Buczek, Weronika A;
- Briggs, Tracy A;
- Hubbard, Simon J;
- Hentges, Kathryn E;
- Newman, William G;
- O'Keefe, Raymond T
Publication type:
Article
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type.
Published in:
Human Mutation, 2020, v. 41, n. 8, p. 1372, doi. 10.1002/humu.24027
By:
- Thomas, Huw B.;
- Wood, Katherine A.;
- Buczek, Weronika A.;
- Gordon, Christopher T.;
- Pingault, Véronique;
- Attié‐Bitach, Tania;
- Hentges, Kathryn E.;
- Varghese, Vinod C.;
- Amiel, Jeanne;
- Newman, William G.;
- O'Keefe, Raymond T.
Publication type:
Article

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