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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: mooney mr. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J. Khan K, et al. Among authors: mooney mr. Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036918 Free PMC article.
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
Peacock JD, Dykema KJ, Toriello HV, Mooney MR, Scholten DJ 2nd, Winn ME, Borgman A, Duesbery NS, Hiemenga JA, Liu C, Campbell S, Nickoloff BP, Williams BO, Steensma M. Peacock JD, et al. Among authors: mooney mr. Am J Med Genet A. 2015 Jul;167(7):1429-35. doi: 10.1002/ajmg.a.37048. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25808193
Anti-tumor effect of sulfasalazine in neuroblastoma.
Mooney MR, Geerts D, Kort EJ, Bachmann AS. Mooney MR, et al. Biochem Pharmacol. 2019 Apr;162:237-249. doi: 10.1016/j.bcp.2019.01.007. Epub 2019 Jan 9. Biochem Pharmacol. 2019. PMID: 30639262
Incidence of cardiac interventions and associated cardiac arrest outcomes in patients with nonshockable initial rhythms and no ST elevation post resuscitation.
Harhash AA, May T, Hsu CH, Seder DB, Dankiewicz J, Agarwal S, Patel N, McPherson J, Riker R, Soreide E, Hirsch KG, Stammet P, Dupont A, Forsberg S, Rubertsson S, Friberg H, Nielsen N, Mooney MR, Kern KB. Harhash AA, et al. Among authors: mooney mr. Resuscitation. 2021 Oct;167:188-197. doi: 10.1016/j.resuscitation.2021.08.026. Epub 2021 Aug 23. Resuscitation. 2021. PMID: 34437992
Risk Stratification Among Survivors of Cardiac Arrest Considered for Coronary Angiography.
Harhash AA, May TL, Hsu CH, Agarwal S, Seder DB, Mooney MR, Patel N, McPherson J, McMullan P, Riker R, Soreide E, Hirsch KG, Stammet P, Dupont A, Rubertsson S, Friberg H, Nielsen N, Rab T, Kern KB. Harhash AA, et al. Among authors: mooney mr. J Am Coll Cardiol. 2021 Feb 2;77(4):360-371. doi: 10.1016/j.jacc.2020.11.043. J Am Coll Cardiol. 2021. PMID: 33509392 Free article.
76 results