Zhang S - Search Results

1

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. El-Hattab AW, et al. Among authors: zhang s. Mol Genet Metab. 2010 Mar;99(3):300-8. doi: 10.1016/j.ymgme.2009.10.003. Epub 2009 Oct 13. Mol Genet Metab. 2010. PMID: 20074988

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. Mol Genet Metab. 2010 Jan;99(1):53-7. doi: 10.1016/j.ymgme.2009.09.003. Mol Genet Metab. 2010. PMID: 19815440

3

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.

Coughlin CR 2nd, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Coughlin CR 2nd, et al. Among authors: zhang s. Mol Genet Metab. 2010 Jul;100(3):296-9. doi: 10.1016/j.ymgme.2010.04.004. Epub 2010 Apr 14. Mol Genet Metab. 2010. PMID: 20462777

4

Interpretation of mitochondrial tRNA variants.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: zhang s, zhang vw. Genet Med. 2020 May;22(5):917-926. doi: 10.1038/s41436-019-0746-0. Epub 2020 Jan 22. Genet Med. 2020. PMID: 31965079 Free article.

5

Correction: Interpretation of mitochondrial tRNA variants.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: zhang s, zhang vw. Genet Med. 2020 May;22(5):979. doi: 10.1038/s41436-020-0770-0. Genet Med. 2020. PMID: 32132679 Free article.

6

Correction: Interpretation of mitochondrial tRNA variants.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: zhang s, zhang vw. Genet Med. 2020 Jun;22(6):1130. doi: 10.1038/s41436-020-0802-9. Genet Med. 2020. PMID: 32269312 Free article.

7

Clinical and laboratory interpretation of mitochondrial mRNA variants.

Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: zhang s, zhang vw. Hum Mutat. 2020 Oct;41(10):1783-1796. doi: 10.1002/humu.24082. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652755

8

Response to Bai et al.

Wong LC, Chen T, Schmitt ES, Wang J, Zhang S, Landsverk M, Li F, Tang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: zhang s, zhang vw. Genet Med. 2020 Aug;22(8):1420-1421. doi: 10.1038/s41436-020-0805-6. Epub 2020 May 18. Genet Med. 2020. PMID: 32418988 Free article. No abstract available.

9

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Deeb KK, et al. Among authors: zhang s. Mol Genet Metab Rep. 2014 Aug 28;1:362-367. doi: 10.1016/j.ymgmr.2014.08.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896109 Free PMC article.

10

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS. DeBrosse SD, et al. Among authors: zhang s. Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23021068

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