Selected publications

Publications that are part of the Web of Science database, possibly also other publications chosen by authors.

2021

• Maroofian, R; Sedmík, J; Mazaheri, N; Scala, M; Zaki, MS; Keegan, LP; Azizimalamiri, R; Issa, M; Shariati, G; Sedaghat, A; Beetz, C; Bauer, P; Galehdari, H; O´Connell, MA; Houlden, H, 2021: Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. JOURNAL OF MEDICAL GENETICS , doi: 10.1136/jmedgenet-2020-107048
• Kurkowiak, M; Arcimowicz, L; Chrusciel, E; Urban-Wojciuk, Z; Papak, I; Keegan, L; O´Connell, M; Kowalski, J; Hupp, T; Marek-Trzonkowska, N, 2021: The effects of RNA editing in cancer tissue at different stages in carcinogenesis. RNA BIOLOGY , doi: 10.1080/15476286.2021.1877024

2020

• Tan, TY; Sedmik, J; Fitzgerald, MP; Halevy, RS; Keegan, LP; Helbig, I; Basel-Salmon, L; Cohen, L; Straussberg, R; Chung, WK; Helal, M; Maroofian, R; Houlden, H; Juusola, J; Sadedin, S; Pais, L; Howell, KB; White, SM; Christodoulou, J; O´Connell, MA, 2020: Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. AMERICAN JOURNAL OF HUMAN GENETICS 106(4), p. 467 - 483, doi: 10.1016/j.ajhg.2020.02.015
• Khan, A; Paro, S; McGurk, L; Sambrani, N; Hogg, MC; Brindle, J; Pennetta, G; Keegan, LP; O´Connell, MA, 2020: Membrane and synaptic defects leading to neurodegeneration in Adar mutant Drosophila are rescued by increased autophagy. BMC BIOLOGY 18(1), doi: 10.1186/s12915-020-0747-0
• Troye-Blomberg, M; Arama, C; Quin, J; Bujila, I; Farrants, AK?, 2020: What will studies of Fulani individuals naturally exposed to malaria teach us about protective immunity to malaria?. SCANDINAVIAN JOURNAL OF IMMUNOLOGY 92(4), doi: 10.1111/sji.12932
• Deng, P; Khan, A; Jacobson, D; Sambrani, N; McGurk, L; Li, XH; Jayasree, A; Hejatko, J; Shohat-Ophir, G; O´Connell, MA; Li, JB; Keegan, LP, 2020: Adar RNA editing-dependent and -independent effects are required for brain and innate immune functions in Drosophila. NATURE COMMUNICATIONS 11(1), doi: 10.1038/s41467-020-15435-1
• Piskacek, M; Havelka, M; Jendruchova, K; Knight, A; Keegan, LP, 2020: The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs. CELLULAR AND MOLECULAR LIFE SCIENCES 77(9), p. 1793 - 1810, doi: 10.1007/s00018-019-03251-w

2019

• Bass, BL; O´Connell, MA; Wagner, EGH, 2019: A celebration of the life of Marie Ohman (1964-2019). RNA 25(10), p. IX - XI, doi: 10.1261/rna.072645.119
• Wiatrek, DM; Candela, ME; Sedmik, JI; Oppelt, J; Keegan, LP; O´Connell, MA, 2019: Activation of innate immunity by mitochondrial dsRNA in mouse cells lacking p53 protein. RNA 25(6), p. 713 - 726, doi: 10.1261/rna.069625.118
• Sinigaglia, K; Wiatrek, D; Khan, A; Michalik, D; Sambrani, N; Sedmik, J; Vukic, D; O´Connell, MA; Keegan, LP, 2019: ADAR RNA editing in innate immune response phasing, in circadian clocks and in sleep. BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS 1862(3), p. 356 - 369, doi: 10.1016/j.bbagrm.2018.10.011

2018

• Jantsch, MF; Quattrone, A; O´Connell, M; Helm, M; Frye, M; Macias-Gonzales, M; Ohman, M; Ameres, S; Willems, L; Fuks, F; Oulas, A; Vanacova, S; Nielsen, H; Bousquet-Antonelli, C; Motorin, Y; Roignant, JY; Balatsos, N; Dinnyes, A; Baranov, P; Kelly, V; Lamm, A; Rechavi, G; Pelizzola, M; Liepins, J; Kholodnyuk, IH; Zammit, V; Ayers, D; Drablos, F; Dahl, JA; Bujnicki, J; Jeronimo, C; Almeida, R; Neagu, M; Costache, M; Bankovic, J; Banovic, B; Kyselovic, J; Valor, LM; Selbert, S; Pir, P; Demircan, T; Cowling, V; Schafer, M; Rossmanith, W; Lafontaine, D; David, A; Carre, C; Lyko, F; Schaffrath, R; Schwartz, S; Verdel, A; Klungland, A; Purta, E; Timotijevic, G; Cardona, F; Davalos, A; Ballana, E; O´Carroll, D; Ule, J; Fray, R, 2018: Positioning Europe for the EPITRANSCRIPTOMICS challenge. RNA BIOLOGY 15(6), p. 829 - 831, doi: 10.1080/15476286.2018.1460996

2017

• Bajad, P; Jantsch, MF; Keegan, L; O´Connell, M, 2017: A to I editing in disease is not fake news. RNA BIOLOGY 14(9), p. 1223 - 1231, doi: 10.1080/15476286.2017.1306173
• Keegan, L; Khan, A; Vukic, D; O´Connell, M, 2017: ADAR RNA editing below the backbone. RNA 23(9), p. 1317 - 1328, doi: 10.1261/rna.060921
• Gallo, A; Vukic, D; Michalik, D; O´Connell, MA; Keegan, LP, 2017: ADAR RNA editing in human disease; more to it than meets the I. HUMAN GENETICS 136(9), p. 1265 - 1278, doi: 10.1007/s00439-017-1837-0
• Tan, MH; Li, Q; Shanmugam, R; Piskol, R; Kohler, J; Young, AN; Liu, KI; Zhang, R; Amaswami, GR; Ariyoshi, K; Gupte, A; Keegan, LP; George, CX; Amu, AR; Huang, N; Pollina, EA; Leeman, DS; Ustighi, AR; Goh, YPS; Hawla, AC; Del Sal, G; Peltz, G; Runet, AB; Onrad, DFC; Samuel, CE; O´Connell, MA; Walkley, CR; Nishikura, K; Li, JB, 2017: Dynamic landscape and regulation of RNA editing in mammals. NATURE 550(7675), p. 249 - +, doi: 10.1038/nature24041
• Quin, JE; Bujila, I; Cherif, M; Sanou, GS; Qu, Y; Homann, MV; Rolicka, A; Sirima, SB; O´Connell, MA; Lennartsson, A; Troye-Blomberg, M; Nebie, I; Farrant, AKO, 2017: Major transcriptional changes observed in the Fulani, an ethnic group less susceptible to malaria. ELIFE 6, doi: 10.7554/eLife.29156

2015

• O´Connell, M, 2015: RNA modification and the epitranscriptome; the next frontier. RNA 21(4), p. 703 - 704, doi: 10.1261/rna.050260.115
• M. A. O’Connell; N. Mannion; L.P. Keegan, 2015: The Epitranscriptome and Innate Immunity. PLOS GENETICS 12(11), doi: 10.1371/journal.pgen.1005687

2014

• Mannion, NM; Greenwood, SM; Young, R; Cox, S; Brindle, J; Read, D; Nellaker, C; Vesely, C; Ponting, CP; McLaughlin, PJ; Jantsch, MF; Dorin, J; Adams, IR; Scadden, ADJ; Ohman, M; Keegan, LP; O´Connell, MA, 2014: The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA. CELL REPORTS 9(4), p. 1482 - 1494, doi: 10.1016/j.celrep.2014.10.041

2013

• Ramaswami, G; Zhang, R; Piskol, R; Keegan, LP; Deng, P; O´Connell, MA; Li, JB, 2013: Identifying RNA editing sites using RNA sequencing data alone. NATURE METHODS 10(2), p. 128 - 132, doi: 10.1038/NMETH.2330

2012

• Rice, GI; Kasher, PR; Forte, GMA; Mannion, NM; Greenwood, SM; Szynkiewicz, M; Dickerson, JE; Bhaskar, SS; Zampini, M; Briggs, TA; Jenkinson, EM; Bacino, CA; Battini, R; Bertini, E; Brogan, PA; Brueton, LA; Carpanelli, M; De Laet, C; de Lonlay, P; del Toro; Keegan, LP; O´Connell, MA; Lovell, SC; Crow, YJ, 2012: Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. NATURE GENETICS 44(11), p. 1243 - 1248, doi: 10.1038/ng.2414

2011

• Marcucci, R; Brindle, J; Paro, S; Casadio, A; Hempel, S; Morrice, N; Bisso, A; Keegan, LP; Del Sal, G; O´Connell, MA, 2011: Pin1 and WWP2 regulate GluR2 Q/R site RNA editing by ADAR2 with opposing effects. EMBO JOURNAL 30(20), p. 4211 - 4222, doi: 10.1038/emboj.2011.303