Vasta V - Search Results

1

Next generation sequence analysis for mitochondrial disorders.

Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH. Vasta V, et al. Genome Med. 2009 Oct 23;1(10):100. doi: 10.1186/gm100. Genome Med. 2009. PMID: 19852779 Free PMC article.

2

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.

Vasta V, Merritt JL 2nd, Saneto RP, Hahn SH. Vasta V, et al. Pediatr Int. 2012 Oct;54(5):585-601. doi: 10.1111/j.1442-200X.2012.03644.x. Epub 2012 Jul 10. Pediatr Int. 2012. PMID: 22494076

3

Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

DaRe JT, Vasta V, Penn J, Tran NT, Hahn SH. DaRe JT, et al. Among authors: vasta v. BMC Med Genet. 2013 Nov 11;14:118. doi: 10.1186/1471-2350-14-118. BMC Med Genet. 2013. PMID: 24215330 Free PMC article.

4

Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.

deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH. deWilde A, et al. Among authors: vasta v. Clin Chem. 2008 Dec;54(12):1961-8. doi: 10.1373/clinchem.2008.111989. Epub 2008 Oct 9. Clin Chem. 2008. PMID: 18845768

5

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.

Chae JH, Vasta V, Cho A, Lim BC, Zhang Q, Eun SH, Hahn SH. Chae JH, et al. Among authors: vasta v. J Med Genet. 2015 Mar;52(3):208-16. doi: 10.1136/jmedgenet-2014-102819. Epub 2015 Jan 29. J Med Genet. 2015. PMID: 25635128

6

Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.

Vasta V, Sedensky M, Morgan P, Hahn SH. Vasta V, et al. Mitochondrion. 2011 Jan;11(1):136-8. doi: 10.1016/j.mito.2010.09.002. Epub 2010 Sep 16. Mitochondrion. 2011. PMID: 20849980

7

Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.

Hahn SH, Kerfoot S, Vasta V. Hahn SH, et al. Among authors: vasta v. Methods Mol Biol. 2012;837:169-79. doi: 10.1007/978-1-61779-504-6_11. Methods Mol Biol. 2012. PMID: 22215547

8

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT, Vasta V, Zhang M, Narayanan J, Gerrits P, Hahn SH. Bennett JT, et al. Among authors: vasta v. Mol Genet Metab. 2015 Mar;114(3):451-8. doi: 10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20. Mol Genet Metab. 2015. PMID: 25555642 Free PMC article.

9

A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.

Lee JH, van Kuilenburg AB, Abeling NG, Vasta V, Hahn SH. Lee JH, et al. Among authors: vasta v. JIMD Rep. 2015;19:117-21. doi: 10.1007/8904_2014_379. Epub 2015 Feb 1. JIMD Rep. 2015. PMID: 25638458 Free PMC article.

10

The role of DMQ(9) in the long-lived mutant clk-1.

Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG. Yang YY, et al. Among authors: vasta v. Mech Ageing Dev. 2011 Jun-Jul;132(6-7):331-9. doi: 10.1016/j.mad.2011.06.009. Epub 2011 Jul 1. Mech Ageing Dev. 2011. PMID: 21745495 Free PMC article.

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