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A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I; Genomics England Consortium; Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: stafford i. medRxiv [Preprint]. 2023 Mar 30:2023.03.21.23287545. doi: 10.1101/2023.03.21.23287545. medRxiv. 2023. Update in: Genet Med. 2024 Apr;26(4):101073. doi: 10.1016/j.gim.2024.101073 PMID: 37034701 Free PMC article. Updated. Preprint.
Ileal Transcriptomic Analysis in Paediatric Crohn's Disease Reveals IL17- and NOD-signalling Expression Signatures in Treatment-naïve Patients and Identifies Epithelial Cells Driving Differentially Expressed Genes.
Ashton JJ, Boukas K, Davies J, Stafford IS, Vallejo AF, Haggarty R, Coelho TAF, Batra A, Afzal NA, Vadgama B, Williams AP, Beattie RM, Polak ME, Ennis S. Ashton JJ, et al. J Crohns Colitis. 2021 May 4;15(5):774-786. doi: 10.1093/ecco-jcc/jjaa236. J Crohns Colitis. 2021. PMID: 33232439 Free PMC article.
Expression profile of the matricellular protein periostin in paediatric inflammatory bowel disease.
Coelho T, Sonnenberg-Riethmacher E, Gao Y, Mossotto E, Khojanazarov A, Griffin A, Mukanova S, Ashimkhanova A, Haggarty R, Borissenko A, Ashton JJ, Stafford IS, Batra A, Afzal NA, Stanton MP, Vadgama B, Adrisova K, Beattie RM, Williams AP, Ennis S, Riethmacher D. Coelho T, et al. Sci Rep. 2021 Mar 18;11(1):6194. doi: 10.1038/s41598-021-85096-7. Sci Rep. 2021. PMID: 33737520 Free PMC article.
Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative Inflammatory Transcripts in Pediatric Inflammatory Bowel Disease.
Ashton JJ, Boukas K, Stafford IS, Cheng G, Haggarty R, Coelho TAF, Batra A, Afzal NA, Williams AP, Polak ME, Beattie RM, Ennis S. Ashton JJ, et al. Inflamm Bowel Dis. 2022 Jun 3;28(6):912-922. doi: 10.1093/ibd/izab318. Inflamm Bowel Dis. 2022. PMID: 34978330 Free PMC article.
95 results