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Items: 1 to 20 of 101

1.

Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.

Tanner AK, Valencia CA, Rhodenizer D, Espirages M, Da Silva C, Borsuk L, Caldwell S, Gregg E, Grimes E, Lichanska AM, Morris L, Purkayastha A, Weslowski B, Tibbetts C, Lorence MC, Hegde M.

J Mol Diagn. 2014 May;16(3):350-60. doi: 10.1016/j.jmoldx.2013.12.003. Epub 2014 Feb 8.

PMID:
24517888
2.

Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.

Hallam S, Nelson H, Greger V, Perreault-Micale C, Davie J, Faulkner N, Neitzel D, Casey K, Umbarger MA, Chennagiri N, Kramer AC, Porreca GJ, Kennedy CJ.

J Mol Diagn. 2014 Mar;16(2):180-9. doi: 10.1016/j.jmoldx.2013.10.006. Epub 2013 Dec 27.

3.

Next-generation carrier screening.

Umbarger MA, Kennedy CJ, Saunders P, Breton B, Chennagiri N, Emhoff J, Greger V, Hallam S, Maganzini D, Micale C, Nizzari MM, Towne CF, Church GM, Porreca GJ.

Genet Med. 2014 Feb;16(2):132-40. doi: 10.1038/gim.2013.83. Epub 2013 Jun 13.

4.

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA.

Eur J Hum Genet. 2012 Jan;20(1):27-32. doi: 10.1038/ejhg.2011.134. Epub 2011 Aug 3.

5.

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.

Martin J, Asan, Yi Y, Alberola T, Rodríguez-Iglesias B, Jiménez-Almazán J, Li Q, Du H, Alama P, Ruiz A, Bosch E, Garrido N, Simon C.

Fertil Steril. 2015 Nov;104(5):1286-93. doi: 10.1016/j.fertnstert.2015.07.1166. Epub 2015 Sep 3.

PMID:
26354092
6.

A universal array-based multiplexed test for cystic fibrosis carrier screening.

Amos JA, Bridge-Cook P, Ponek V, Jarvis MR.

Expert Rev Mol Diagn. 2006 Jan;6(1):15-22.

PMID:
16359263
7.

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF.

Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.

8.

PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.

Grody WW, Dunkel-Schetter C, Tatsugawa ZH, Fox MA, Fang CY, Cantor RM, Novak JM, Bass HN, Crandall BF.

Am J Hum Genet. 1997 Apr;60(4):935-47.

9.

Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM.

Pediatr Res. 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318.

PMID:
19858779
10.

Carrier screening for Gaucher disease in couples of mixed ethnicity.

Wallerstein R, Starkman A, Jansen V.

Genet Test. 2001 Spring;5(1):61-4.

PMID:
11336404
11.

Current recommendations: Screening for Mendelian disorders.

Rose NC, Wick M.

Semin Perinatol. 2016 Feb;40(1):23-8. doi: 10.1053/j.semperi.2015.11.004. Epub 2015 Dec 17. Review.

PMID:
26706396
12.
13.

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K.

Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16. doi: 10.1177/0194599813482294. Epub 2013 Mar 22.

PMID:
23525850
14.

[A study on gene mutation spectrums of α- and β-thalassemias in populations of Yunnan Province and the prenatal gene diagnosis].

Zhu BS, He J, Zhang J, Zeng XH, Su J, Xu XH, Li SY, Chen H, Zhang YH.

Zhonghua Fu Chan Ke Za Zhi. 2012 Feb;47(2):85-9. Chinese.

PMID:
22455737
15.
16.

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics.

Kanagal-Shamanna R, Portier BP, Singh RR, Routbort MJ, Aldape KD, Handal BA, Rahimi H, Reddy NG, Barkoh BA, Mishra BM, Paladugu AV, Manekia JH, Kalhor N, Chowdhuri SR, Staerkel GA, Medeiros LJ, Luthra R, Patel KP.

Mod Pathol. 2014 Feb;27(2):314-27. doi: 10.1038/modpathol.2013.122. Epub 2013 Aug 2.

17.

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.

Strom CM, Crossley B, Buller-Buerkle A, Jarvis M, Quan F, Peng M, Muralidharan K, Pratt V, Redman JB, Sun W.

Genet Med. 2011 Feb;13(2):166-72. doi: 10.1097/GIM.0b013e3181fa24c4.

PMID:
21068670
18.

[Mutation screening of the F VIII gene in 10 hemophilia A families].

LI W, HU X, GAO BD, LI LY, LIAO Y, TANG XM, TANG WL, Lu GX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):127-32. doi: 10.3760/cma.j.issn.1003-9406.2011.02.002. Chinese.

PMID:
21462120
19.

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.

Chan M, Ji SM, Yeo ZX, Gan L, Yap E, Yap YS, Ng R, Tan PH, Ho GH, Ang P, Lee AS.

J Mol Diagn. 2012 Nov;14(6):602-12. doi: 10.1016/j.jmoldx.2012.06.003. Epub 2012 Aug 22.

PMID:
22921312
20.

Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing.

Elliott AM, Radecki J, Moghis B, Li X, Kammesheidt A.

J Biomol Tech. 2012 Apr;23(1):24-30. doi: 10.7171/jbt.12-2301-003.

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