Schmitt ES - Search Results

1

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F. Burrage LC, et al. Among authors: schmitt es. Mol Genet Metab. 2014 Nov;113(3):207-12. doi: 10.1016/j.ymgme.2014.06.004. Epub 2014 Jun 30. Mol Genet Metab. 2014. PMID: 25037980 Free PMC article.

2

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.

Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Zhang S, et al. Among authors: schmitt es. Mol Genet Metab. 2010 Jan;99(1):53-7. doi: 10.1016/j.ymgme.2009.09.003. Mol Genet Metab. 2010. PMID: 19815440

3

Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.

Wang J, Zhan H, Li FY, Pursley AN, Schmitt ES, Wong LJ. Wang J, et al. Among authors: schmitt es. Mol Genet Metab. 2012 Jun;106(2):221-30. doi: 10.1016/j.ymgme.2012.03.005. Epub 2012 Mar 21. Mol Genet Metab. 2012. PMID: 22494545

4

Molecular characterization of CPS1 deletions by array CGH.

Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Wang J, et al. Among authors: schmitt es. Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19. Mol Genet Metab. 2011. PMID: 20855223 Free PMC article.

5

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Tang S, et al. Among authors: schmitt es. J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31. J Med Genet. 2011. PMID: 21880868

6

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Wang J, Schmitt ES, Landsverk ML, Zhang VW, Li FY, Graham BH, Craigen WJ, Wong LJ. Wang J, et al. Among authors: schmitt es. Genet Med. 2012 Jun;14(6):620-6. doi: 10.1038/gim.2012.4. Epub 2012 Mar 8. Genet Med. 2012. PMID: 22402757 Free article.

7

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ. Tang S, et al. Among authors: schmitt es. Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23463613

8

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ. Comeaux MS, et al. Among authors: schmitt es. Mol Genet Metab. 2013 Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17. Mol Genet Metab. 2013. PMID: 23660394

9

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.

Kumar RD, Burrage LC, Bartos J, Ali S, Schmitt E, Nagamani SCS, LeMons C. Kumar RD, et al. Mol Genet Metab Rep. 2021 Jan 8;26:100706. doi: 10.1016/j.ymgmr.2020.100706. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33489762 Free PMC article.

10

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ. Li FY, et al. Among authors: schmitt es. Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311. Hum Mutat. 2010. PMID: 20574985

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