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458 results

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Page 1
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.
O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE. O'Gorman L, et al. Among authors: ennis s. Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7. Sci Rep. 2019. PMID: 31519934 Free PMC article.
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Lin S, Sanchez-Bretaño A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, Schmitt MA, Norman CS, Hammond S, Harlalka GV, Ennis S, Cross HE, Wenger O, Crosby AH, Baple EL, Self JE. Lin S, et al. Among authors: ennis s. NPJ Genom Med. 2022 Jan 13;7(1):2. doi: 10.1038/s41525-021-00275-9. NPJ Genom Med. 2022. PMID: 35027574 Free PMC article.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Õunap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, van Gassen K, van Jaarsveld RH. Janssen BDE, et al. Among authors: ennis s. Hum Mutat. 2022 Dec;43(12):1844-1851. doi: 10.1002/humu.24444. Epub 2022 Aug 10. Hum Mutat. 2022. PMID: 35904126 Free PMC article.
NOD2 in Crohn's Disease-Unfinished Business.
Ashton JJ, Seaby EG, Beattie RM, Ennis S. Ashton JJ, et al. Among authors: ennis s. J Crohns Colitis. 2023 Apr 3;17(3):450-458. doi: 10.1093/ecco-jcc/jjac124. J Crohns Colitis. 2023. PMID: 36006803 Free PMC article.
Response to Ramos et al.
Seaby EG, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: ennis s. Genet Med. 2022 Dec;24(12):2593-2594. doi: 10.1016/j.gim.2022.08.016. Epub 2022 Sep 19. Genet Med. 2022. PMID: 36121441 Free article. No abstract available.
Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis.
Sirvent S, Vallejo AF, Corden E, Teo Y, Davies J, Clayton K, Seaby EG, Lai C, Ennis S, Alyami R, Douilhet G, Dean LSN, Loxham M, Horswill S, Healy E, Roberts G, Hall NJ, Friedmann PS, Singh H, Bennett CL, Ardern-Jones MR, Polak ME. Sirvent S, et al. Among authors: ennis s. Nat Commun. 2023 May 19;14(1):2880. doi: 10.1038/s41467-023-38588-1. Nat Commun. 2023. PMID: 37208336 Free PMC article.
458 results