McDonald AM - Search Results

1

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.

2

Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS.

Folmes CD, Martinez-Fernandez A, Perales-Clemente E, Li X, McDonald A, Oglesbee D, Hrstka SC, Perez-Terzic C, Terzic A, Nelson TJ. Folmes CD, et al. Stem Cells. 2013 Jul;31(7):1298-308. doi: 10.1002/stem.1389. Stem Cells. 2013. PMID: 23553816 Free PMC article.

3

Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.

Butz M, McDonald A, Lundquist PA, Meyer M, Harrington S, Kester S, Stein MI, Mistry NA, Zimmerman Zuckerman E, Niu Z, Schimmenti L, Hasadsri L, Boczek NJ. Butz M, et al. J Appl Lab Med. 2020 May 1;5(3):467-479. doi: 10.1093/jalm/jfaa021. J Appl Lab Med. 2020. PMID: 32445360 Free article.

4

Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy.

Zepeda-Mendoza CJ, Bontrager JE, Fisher CF, McDonald A, George-Abraham JK, Hasadsri L. Zepeda-Mendoza CJ, et al. Clin Case Rep. 2022 Jul 11;10(7):e6008. doi: 10.1002/ccr3.6008. eCollection 2022 Jul. Clin Case Rep. 2022. PMID: 35846917 Free PMC article.

5

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia.

Cocanougher B, Aypar U, McDonald A, Hasadsri L, Bennett MJ, Edward Highsmith W, D׳Aco K. Cocanougher B, et al. Data Brief. 2015 Feb 7;3:34-9. doi: 10.1016/j.dib.2015.01.001. eCollection 2015 Jun. Data Brief. 2015. PMID: 26217714 Free PMC article.

6

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. 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.

7

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.

8

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.

9

Longitudinal brain volumetrics in glioma survivors.

McDonald AM, Murdaugh DL, Heinzman KA, Cardan RA, Jacob J, Fiveash JB, Nabors LB, Cooper CA, Hoyle JM, Milner D, Cardenas CE. McDonald AM, et al. J Neurosurg. 2024 Apr 26:1-8. doi: 10.3171/2024.1.JNS231980. Online ahead of print. J Neurosurg. 2024. PMID: 38669700

10

Microbiomes of Thalassia testudinum throughout the Atlantic Ocean, Caribbean Sea, and Gulf of Mexico are influenced by site and region while maintaining a core microbiome.

Ugarelli K, Campbell JE, Rhoades OK, Munson CJ, Altieri AH, Douglass JG, Heck KL Jr, Paul VJ, Barry SC, Christ L, Fourqurean JW, Frazer TK, Linhardt ST, Martin CW, McDonald AM, Main VA, Manuel SA, Marco-Méndez C, Reynolds LK, Rodriguez A, Rodriguez Bravo LM, Sawall Y, Smith K, Wied WL, Choi CJ, Stingl U. Ugarelli K, et al. Among authors: mcdonald am. Front Microbiol. 2024 Feb 23;15:1357797. doi: 10.3389/fmicb.2024.1357797. eCollection 2024. Front Microbiol. 2024. PMID: 38463486 Free PMC article.

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