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Page 1
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: ennis s. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
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.
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 Free PMC article.
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation.
Scheffel J, Mahnke NA, Hofman ZLM, Maat S, Wu J, Bonnekoh H, Pengelly RJ, Ennis S, Holloway JW, Kirchner M, Mertins P, Church MK, Maurer M, Maas C, Krause K. Scheffel J, et al. Among authors: ennis s. Nat Commun. 2020 Jan 10;11(1):179. doi: 10.1038/s41467-019-13984-8. Nat Commun. 2020. PMID: 31924766 Free PMC article.
Genome scanning by composite likelihood.
Morton N, Maniatis N, Zhang W, Ennis S, Collins A. Morton N, et al. Among authors: ennis s. Am J Hum Genet. 2007 Jan;80(1):19-28. doi: 10.1086/510401. Epub 2006 Dec 5. Am J Hum Genet. 2007. PMID: 17160891 Free PMC article.
The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
Tapper W, Hammond V, Gerty S, Ennis S, Simmonds P, Collins A; Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) Steering Group; Eccles D. Tapper W, et al. Among authors: ennis s. Breast Cancer Res. 2008;10(6):R108. doi: 10.1186/bcr2213. Epub 2008 Dec 18. Breast Cancer Res. 2008. PMID: 19094228 Free PMC article.
458 results