Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

Research output: Contribution to journalJournal articleResearchpeer-review

Standard

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. / Sun, Yan; Yuan, Jing; Wu, Limin; Li, Min; Cui, Xiaoli; Yan, Chengbin; Du, Lique; Mao, Liangwei; Man, Jianfen; Li, Wei; Kristiansen, Karsten; Wu, Xuan; Pan, Weijun; Yang, Yun; Yang, Yun.

In: Medicine, Vol. 98, No. 12, e14860, 2019, p. 1-7.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Sun, Y, Yuan, J, Wu, L, Li, M, Cui, X, Yan, C, Du, L, Mao, L, Man, J, Li, W, Kristiansen, K, Wu, X, Pan, W, Yang, Y & Yang, Y 2019, 'Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform', Medicine, vol. 98, no. 12, e14860, pp. 1-7. https://doi.org/10.1097/MD.0000000000014860

APA

Sun, Y., Yuan, J., Wu, L., Li, M., Cui, X., Yan, C., Du, L., Mao, L., Man, J., Li, W., Kristiansen, K., Wu, X., Pan, W., Yang, Y., & Yang, Y. (2019). Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. Medicine, 98(12), 1-7. [e14860]. https://doi.org/10.1097/MD.0000000000014860

Vancouver

Sun Y, Yuan J, Wu L, Li M, Cui X, Yan C et al. Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. Medicine. 2019;98(12):1-7. e14860. https://doi.org/10.1097/MD.0000000000014860

Author

Sun, Yan ; Yuan, Jing ; Wu, Limin ; Li, Min ; Cui, Xiaoli ; Yan, Chengbin ; Du, Lique ; Mao, Liangwei ; Man, Jianfen ; Li, Wei ; Kristiansen, Karsten ; Wu, Xuan ; Pan, Weijun ; Yang, Yun ; Yang, Yun. / Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform. In: Medicine. 2019 ; Vol. 98, No. 12. pp. 1-7.

Bibtex

@article{4445904733fa4df1a81b3355f0c28f7b,
title = "Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform",
keywords = "BGISEQ-500, hearing loss, mutation detection, targeted NGS",
author = "Yan Sun and Jing Yuan and Limin Wu and Min Li and Xiaoli Cui and Chengbin Yan and Lique Du and Liangwei Mao and Jianfen Man and Wei Li and Karsten Kristiansen and Xuan Wu and Weijun Pan and Yun Yang and Yun Yang",
year = "2019",
doi = "10.1097/MD.0000000000014860",
language = "English",
volume = "98",
pages = "1--7",
journal = "Medicine (Baltimore)",
issn = "0025-7974",
publisher = "Wolters Kluwer Health, Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

AU - Sun, Yan

AU - Yuan, Jing

AU - Wu, Limin

AU - Li, Min

AU - Cui, Xiaoli

AU - Yan, Chengbin

AU - Du, Lique

AU - Mao, Liangwei

AU - Man, Jianfen

AU - Li, Wei

AU - Kristiansen, Karsten

AU - Wu, Xuan

AU - Pan, Weijun

AU - Yang, Yun

AU - Yang, Yun

PY - 2019

Y1 - 2019

KW - BGISEQ-500

KW - hearing loss

KW - mutation detection

KW - targeted NGS

U2 - 10.1097/MD.0000000000014860

DO - 10.1097/MD.0000000000014860

M3 - Journal article

C2 - 30896630

VL - 98

SP - 1

EP - 7

JO - Medicine (Baltimore)

JF - Medicine (Baltimore)

SN - 0025-7974

IS - 12

M1 - e14860

ER -

ID: 215919534