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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: mcdonald a. 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.
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders KA, Gavrilov DK, Oglesbee D, Raymond KM, Tortorelli S, Hopwood JJ, Lorey F, Majumdar R, Kroll CA, McDonald AM, Lacey JM, Turgeon CT, Tucker JN, Tang H, Currier R, Isaya G, Rinaldo P, Matern D. Sanders KA, et al. Among authors: mcdonald am. Int J Neonatal Screen. 2020 Jun;6(2):44. doi: 10.3390/ijns6020044. Epub 2020 May 30. Int J Neonatal Screen. 2020. PMID: 32802993 Free PMC article.
Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors.
Winters JL, Davila JI, McDonald AM, Nair AA, Fadra N, Wehrs RN, Thomas BC, Balcom JR, Jin L, Wu X, Voss JS, Klee EW, Oliver GR, Graham RP, Neff JL, Rumilla KM, Aypar U, Kipp BR, Jenkins RB, Jen J, Halling KC. Winters JL, et al. Among authors: mcdonald am. J Mol Diagn. 2018 Jul;20(4):495-511. doi: 10.1016/j.jmoldx.2018.03.007. Epub 2018 Jun 19. J Mol Diagn. 2018. PMID: 29929942 Free article.
Impact of RNA degradation on fusion detection by RNA-seq.
Davila JI, Fadra NM, Wang X, McDonald AM, Nair AA, Crusan BR, Wu X, Blommel JH, Jen J, Rumilla KM, Jenkins RB, Aypar U, Klee EW, Kipp BR, Halling KC. Davila JI, et al. Among authors: mcdonald am. BMC Genomics. 2016 Oct 20;17(1):814. doi: 10.1186/s12864-016-3161-9. BMC Genomics. 2016. PMID: 27765019 Free PMC article.
Transitions to crop residue burning have multiple antecedents in Eastern India.
Urban Cordeiro E, Samaddar A, Munshi S, Ajay A, Rossiter DG, Sohane RK, Malik R, Craufurd P, Pingali P, McDonald AJ. Urban Cordeiro E, et al. Among authors: mcdonald aj. Agron Sustain Dev. 2024;44(6):59. doi: 10.1007/s13593-024-00983-3. Epub 2024 Nov 7. Agron Sustain Dev. 2024. PMID: 39525283 Free PMC article.
1,875 results