Tang S - Search Results

1

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. Among authors: tang s. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.

2

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.

Powis Z, Farwell KD, Alamillo CL, Tang S. Powis Z, et al. Among authors: tang s. J Hum Genet. 2016 Feb;61(2):173-5. doi: 10.1038/jhg.2015.125. Epub 2015 Oct 22. J Hum Genet. 2016. PMID: 26490185

3

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S. Farwell Hagman KD, et al. Among authors: tang s. Genet Med. 2017 Feb;19(2):224-235. doi: 10.1038/gim.2016.95. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513193 Free PMC article.

4

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.

Powis Z, Espenschied CR, LaDuca H, Hagman KD, Paudyal T, Li S, Inaba H, Mauer A, Nathanson KL, Knost J, Chao EC, Tang S. Powis Z, et al. Among authors: tang s. Cancer Genet. 2018 Aug;224-225:12-20. doi: 10.1016/j.cancergen.2018.04.002. Epub 2018 Apr 6. Cancer Genet. 2018. PMID: 29778231

5

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S. Farwell KD, et al. Among authors: tang s. Genet Med. 2015 Jul;17(7):578-86. doi: 10.1038/gim.2014.154. Epub 2014 Nov 13. Genet Med. 2015. PMID: 25356970 Free article.

6

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S. Alamillo CL, et al. Among authors: tang s. Prenat Diagn. 2015 Nov;35(11):1073-8. doi: 10.1002/pd.4648. Epub 2015 Aug 3. Prenat Diagn. 2015. PMID: 26147564

7

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.

Shahmirzadi L, Chao EC, Palmaer E, Parra MC, Tang S, Gonzalez KD. Shahmirzadi L, et al. Among authors: tang s. Genet Med. 2014 May;16(5):395-9. doi: 10.1038/gim.2013.153. Epub 2013 Oct 10. Genet Med. 2014. PMID: 24113345 Free PMC article.

8

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.

Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S. Gandomi SK, et al. Among authors: tang s. J Genet Couns. 2014 Jun;23(3):289-98. doi: 10.1007/s10897-013-9671-6. Epub 2013 Dec 4. J Genet Couns. 2014. PMID: 24306141

9

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.

Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S. Mroske C, et al. Among authors: tang s. BMC Med Genet. 2015 Nov 5;16:102. doi: 10.1186/s12881-015-0240-8. BMC Med Genet. 2015. PMID: 26542245 Free PMC article.

10

POGZ truncating alleles cause syndromic intellectual disability.

White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. White J, et al. Among authors: tang s. Genome Med. 2016 Jan 6;8(1):3. doi: 10.1186/s13073-015-0253-0. Genome Med. 2016. PMID: 26739615 Free PMC article.

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