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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Among authors: freyer e. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Handley MT, Mégarbané A, Meynert AM, Brown S, Freyer E, Taylor MS, Jackson IJ, Aligianis IA. Handley MT, et al. Among authors: freyer e. Mol Genet Genomic Med. 2014 Jul;2(4):319-25. doi: 10.1002/mgg3.70. Epub 2014 Mar 11. Mol Genet Genomic Med. 2014. PMID: 25077174 Free PMC article.
Acute multiple organ failure in adult mice deleted for the developmental regulator Wt1.
Chau YY, Brownstein D, Mjoseng H, Lee WC, Buza-Vidas N, Nerlov C, Jacobsen SE, Perry P, Berry R, Thornburn A, Sexton D, Morton N, Hohenstein P, Freyer E, Samuel K, van't Hof R, Hastie N. Chau YY, et al. Among authors: freyer e. PLoS Genet. 2011 Dec;7(12):e1002404. doi: 10.1371/journal.pgen.1002404. Epub 2011 Dec 22. PLoS Genet. 2011. PMID: 22216009 Free PMC article.
Toll-like receptor 2 orchestrates a tumor suppressor response in non-small cell lung cancer.
Millar FR, Pennycuick A, Muir M, Quintanilla A, Hari P, Freyer E, Gautier P, Meynert A, Grimes G, Coll CS, Zdral S, Victorelli S, Teixeira VH, Connelly J, Passos JF, Ros MA, Wallace WAH, Frame MC, Sims AH, Boulter L, Janes SM, Wilkinson S, Acosta JC. Millar FR, et al. Among authors: freyer e. Cell Rep. 2022 Nov 8;41(6):111596. doi: 10.1016/j.celrep.2022.111596. Cell Rep. 2022. PMID: 36351380 Free PMC article.
FutureMS cohort profile: a Scottish multicentre inception cohort study of relapsing-remitting multiple sclerosis.
Kearns PKA, Martin SJ, Chang J, Meijboom R, York EN, Chen Y, Weaver C, Stenson A, Hafezi K, Thomson S, Freyer E, Murphy L, Harroud A, Foley P, Hunt D, McLeod M, O'Riordan J, Carod-Artal FJ, MacDougall NJJ, Baranzini SE, Waldman AD, Connick P, Chandran S. Kearns PKA, et al. Among authors: freyer e. BMJ Open. 2022 Jun 29;12(6):e058506. doi: 10.1136/bmjopen-2021-058506. BMJ Open. 2022. PMID: 35768080 Free PMC article.
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