Zhang S - Search Results

1

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.

2

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

3

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

4

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. Bedoyan JK, et al. Among authors: zhang s. JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul. JIMD Rep. 2019. PMID: 31392110 Free PMC article.

5

Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

Goldstein JH, Tim-Aroon T, Shieh J, Merrill M, Deeb KK, Zhang S, Bass NE, Bedoyan JK. Goldstein JH, et al. Among authors: zhang s. Eur J Med Genet. 2015 Oct;58(10):562-8. doi: 10.1016/j.ejmg.2015.09.007. Epub 2015 Sep 18. Eur J Med Genet. 2015. PMID: 26386245

6

The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform.

Deeb KK, Metcalf JD, Sesock KM, Shen J, Wensel CA, Rippel LI, Smith M, Chapman MS, Zhang S. Deeb KK, et al. Among authors: zhang s. J Mol Diagn. 2015 Jul;17(4):360-5. doi: 10.1016/j.jmoldx.2015.02.005. Epub 2015 May 5. J Mol Diagn. 2015. PMID: 25956447 Free article.

7

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

8

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

9

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.

Vengoechea J, Parikh AS, Zhang S, Tassone F. Vengoechea J, et al. Among authors: zhang s. Eur J Hum Genet. 2012 Nov;20(11):1197-200. doi: 10.1038/ejhg.2012.78. Epub 2012 May 2. Eur J Hum Genet. 2012. PMID: 22549406 Free PMC article.

10

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.

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