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TET2-Driven Clonal Hematopoiesis and Response to Canakinumab: An Exploratory Analysis of the CANTOS Randomized Clinical Trial.
Svensson EC, Madar A, Campbell CD, He Y, Sultan M, Healey ML, Xu H, D'Aco K, Fernandez A, Wache-Mainier C, Libby P, Ridker PM, Beste MT, Basson CT. Svensson EC, et al. Among authors: d aco k. JAMA Cardiol. 2022 May 1;7(5):521-528. doi: 10.1001/jamacardio.2022.0386. JAMA Cardiol. 2022. PMID: 35385050 Free PMC article. Clinical Trial.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative. Bentler K, et al. Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15. Mol Genet Metab. 2016. PMID: 27477829 Free PMC article.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study; Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. DeSanto C, et al. Among authors: d aco k. J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11. J Med Genet. 2015. PMID: 26264232
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.
Vogel BH, Bradley SE, Adams DJ, D'Aco K, Erbe RW, Fong C, Iglesias A, Kronn D, Levy P, Morrissey M, Orsini J, Parton P, Pellegrino J, Saavedra-Matiz CA, Shur N, Wasserstein M, Raymond GV, Caggana M. Vogel BH, et al. Among authors: d aco k. Mol Genet Metab. 2015 Apr;114(4):599-603. doi: 10.1016/j.ymgme.2015.02.002. Epub 2015 Feb 12. Mol Genet Metab. 2015. PMID: 25724074
Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease.
Cocanougher B, Aypar U, McDonald A, Hasadsri L, Bennett MJ, Edward Highsmith W, D'Aco K. Cocanougher B, et al. Among authors: d aco k. Mol Genet Metab Rep. 2015 Jan 21;2:61-64. doi: 10.1016/j.ymgmr.2014.12.004. eCollection 2015 Mar. Mol Genet Metab Rep. 2015. PMID: 28649529 Free PMC article.
What is in the can? The dilemma with dietary supplements.
D'Aco K, Mooney R, Cusmano-Ozog K, Hofherr S, Lichter-Konecki U. D'Aco K, et al. Mol Genet Metab. 2014 Dec;113(4):239-40. doi: 10.1016/j.ymgme.2014.10.009. Epub 2014 Oct 22. Mol Genet Metab. 2014. PMID: 25453401 No abstract available.
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