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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: wheeler a. 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.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG; UK10K; FitzPatrick DR. Rainger J, et al. Among authors: wheeler a. Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28493397 Free PMC article.
cGAS surveillance of micronuclei links genome instability to innate immunity.
Mackenzie KJ, Carroll P, Martin CA, Murina O, Fluteau A, Simpson DJ, Olova N, Sutcliffe H, Rainger JK, Leitch A, Osborn RT, Wheeler AP, Nowotny M, Gilbert N, Chandra T, Reijns MAM, Jackson AP. Mackenzie KJ, et al. Among authors: wheeler ap. Nature. 2017 Aug 24;548(7668):461-465. doi: 10.1038/nature23449. Epub 2017 Jul 24. Nature. 2017. PMID: 28738408 Free PMC article.
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. Uggenti C, et al. Among authors: wheeler ap. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Nat Genet. 2020. PMID: 33230297 Free article.
PRL3-DDX21 Transcriptional Control of Endolysosomal Genes Restricts Melanocyte Stem Cell Differentiation.
Johansson JA, Marie KL, Lu Y, Brombin A, Santoriello C, Zeng Z, Zich J, Gautier P, von Kriegsheim A, Brunsdon H, Wheeler AP, Dreger M, Houston DR, Dooley CM, Sims AH, Busch-Nentwich EM, Zon LI, Illingworth RS, Patton EE. Johansson JA, et al. Among authors: wheeler ap. Dev Cell. 2020 Aug 10;54(3):317-332.e9. doi: 10.1016/j.devcel.2020.06.013. Epub 2020 Jul 10. Dev Cell. 2020. PMID: 32652076 Free PMC article.
Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.
Potter SN, Reynolds E, Okoniewski KC, Edwards A, Gable J, Hill C, Bakalov V, Zentz S, Whiting C, Cheves E, Garbarini K, Jalazo E, Howell C, Moore A, Wheeler A. Potter SN, et al. Among authors: wheeler a. Ther Adv Rare Dis. 2024 May 27;5:26330040241254122. doi: 10.1177/26330040241254122. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38808315 Free PMC article. Review.
Increased vascular stiffness in children exposed in utero but not children exposed postnatally to emissions from a coal mine fire.
Hemstock EJ, Bigaran A, Allgood S, Wheeler AJ, Dalton M, Williamson GJ, Gao CX, Abramson MJ, Negishi K, Johnston FH, Zosky GR. Hemstock EJ, et al. Among authors: wheeler aj. Environ Epidemiol. 2024 Apr 12;8(3):e309. doi: 10.1097/EE9.0000000000000309. eCollection 2024 Jun. Environ Epidemiol. 2024. PMID: 38799260 Free PMC article.
Hepatocellular RECK as a Critical Regulator of Metabolic Dysfunction-Associated Steatohepatitis Development.
Dashek RJ, Cunningham RP, Taylor CL, Alessi I, Diaz C, Meers GM, Wheeler AA, Ibdah JA, Parks EJ, Yoshida T, Chandrasekar B, Rector RS. Dashek RJ, et al. Among authors: wheeler aa. Cell Mol Gastroenterol Hepatol. 2024 May 24:101365. doi: 10.1016/j.jcmgh.2024.101365. Online ahead of print. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38797477 Free article.
1,263 results