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Page 1
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: ahlfors h. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D, Omoyinmi E, Hong Y, Mulhern C, Papadopoulou C, Casimir M, Hacohen Y, Nyanhete R, Ahlfors H, Cullup T, Lim M, Gilmour K, Mankad K, Wassmer E, Berg S, Hemingway C, Brogan P, Eleftheriou D. McCreary D, et al. Among authors: ahlfors h. JAMA Netw Open. 2019 Oct 2;2(10):e1914274. doi: 10.1001/jamanetworkopen.2019.14274. JAMA Netw Open. 2019. PMID: 31664448 Free PMC article.
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. Patel A, et al. Among authors: ahlfors h. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
Omoyinmi E, Standing A, Keylock A, Price-Kuehne F, Melo Gomes S, Rowczenio D, Nanthapisal S, Cullup T, Nyanhete R, Ashton E, Murphy C, Clarke M, Ahlfors H, Jenkins L, Gilmour K, Eleftheriou D, Lachmann HJ, Hawkins PN, Klein N, Brogan PA. Omoyinmi E, et al. Among authors: ahlfors h. PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017. PLoS One. 2017. PMID: 28750028 Free PMC article.
Fate mapping of IL-17-producing T cells in inflammatory responses.
Hirota K, Duarte JH, Veldhoen M, Hornsby E, Li Y, Cua DJ, Ahlfors H, Wilhelm C, Tolaini M, Menzel U, Garefalaki A, Potocnik AJ, Stockinger B. Hirota K, et al. Among authors: ahlfors h. Nat Immunol. 2011 Mar;12(3):255-63. doi: 10.1038/ni.1993. Epub 2011 Jan 30. Nat Immunol. 2011. PMID: 21278737 Free PMC article.
46 results