Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening

Jicheng Qian; Xiaonan Wang; Jia Liu; Junyuan Zhong; Yanqun Le; Laurent C. A. Melchior Tellier; Chao Liu; Pingping Jiang; Rui Gao; Yuan Wang

doi:10.1515/jpem-2017-0003

Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening

Jicheng Qian, Xiaonan Wang, Jia Liu, Junyuan Zhong, Yanqun Le, Laurent C. A. Melchior Tellier, Chao Liu, Pingping Jiang, Rui Gao, Yuan Wang

Computational and RNA Biology

10 Citations (Scopus)

Original language	English
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	30
Issue number	9
Pages (from-to)	979-988
Number of pages	10
ISSN	0334-018X
DOIs	https://doi.org/10.1515/jpem-2017-0003
Publication status	Published - 28 Aug 2017

Keywords

dried blood spot
inborn errors of metabolism
newborn screening
tandem mass spectrometry
targeted next generation sequencing

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10.1515/jpem-2017-0003

http://www.degruyter.com/downloadpdf/j/jpem.2017.30.issue-9/jpem-2017-0003/jpem-2017-0003.xml

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Qian, J., Wang, X., Liu, J., Zhong, J., Le, Y., Tellier, L. C. A. M., Liu, C., Jiang, P., Gao, R., & Wang, Y. (2017). Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening. Journal of Pediatric Endocrinology and Metabolism, 30(9), 979-988. https://doi.org/10.1515/jpem-2017-0003

Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening. / Qian, Jicheng; Wang, Xiaonan; Liu, Jia et al.

In: Journal of Pediatric Endocrinology and Metabolism, Vol. 30, No. 9, 28.08.2017, p. 979-988.

Research output: Contribution to journal › Journal article › Research › peer-review

Qian, J, Wang, X, Liu, J, Zhong, J, Le, Y, Tellier, LCAM, Liu, C, Jiang, P, Gao, R & Wang, Y 2017, 'Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening', Journal of Pediatric Endocrinology and Metabolism, vol. 30, no. 9, pp. 979-988. https://doi.org/10.1515/jpem-2017-0003

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title = "Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening",

keywords = "dried blood spot, inborn errors of metabolism, newborn screening, tandem mass spectrometry, targeted next generation sequencing",

author = "Jicheng Qian and Xiaonan Wang and Jia Liu and Junyuan Zhong and Yanqun Le and Tellier, {Laurent C. A. Melchior} and Chao Liu and Pingping Jiang and Rui Gao and Yuan Wang",

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T1 - Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening

AU - Qian, Jicheng

AU - Wang, Xiaonan

AU - Liu, Jia

AU - Zhong, Junyuan

AU - Le, Yanqun

AU - Tellier, Laurent C. A. Melchior

AU - Liu, Chao

AU - Jiang, Pingping

AU - Gao, Rui

AU - Wang, Yuan

PY - 2017/8/28

Y1 - 2017/8/28

KW - dried blood spot

KW - inborn errors of metabolism

KW - newborn screening

KW - tandem mass spectrometry

KW - targeted next generation sequencing

U2 - 10.1515/jpem-2017-0003

DO - 10.1515/jpem-2017-0003

M3 - Journal article

C2 - 28771436

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SP - 979

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JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

IS - 9

ER -

Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening

Keywords

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