Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Xiaoming Wei; Yi Dai; Ping Yu; Ning Qu; Zhangzhang Lan; Xiafei Hong; Yan Sun; Guanghui Yang; Shuqi Xie; Quan Shi; Hanlin Zhou; Qian Zhu; Yuxing Chu; Fengxia Yao; Jinming Wang; Jingni He; Yun Yang; Yu Liang; Yi Yang; Ming Qi; Ling Yang; Wei Wang; Haitao Wu; Jing Duan; Cheng Shen; Jun Wang; Liying Cui; Xin Yi

doi:10.1038/ejhg.2013.82

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Xiaoming Wei, Yi Dai, Ping Yu, Ning Qu, Zhangzhang Lan, Xiafei Hong, Yan Sun, Guanghui Yang, Shuqi Xie, Quan Shi, Hanlin Zhou, Qian Zhu, Yuxing Chu, Fengxia Yao, Jinming Wang, Jingni He, Yun Yang, Yu Liang, Yi Yang, Ming QiLing Yang, Wei Wang, Haitao Wu, Jing Duan, Cheng Shen, Jun Wang, Liying Cui, Xin Yi

Genomforskning og Molekylær Biomedicin

47 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	22
Sider (fra-til)	110-118
Antal sider	9
ISSN	1018-4813
DOI	https://doi.org/10.1038/ejhg.2013.82
Status	Udgivet - jan. 2014

Adgang til dokumentet

10.1038/ejhg.2013.82

Citationsformater

Wei, X., Dai, Y., Yu, P., Qu, N., Lan, Z., Hong, X., Sun, Y., Yang, G., Xie, S., Shi, Q., Zhou, H., Zhu, Q., Chu, Y., Yao, F., Wang, J., He, J., Yang, Y., Liang, Y., Yang, Y., ... Yi, X. (2014). Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study. European Journal of Human Genetics, 22, 110-118. https://doi.org/10.1038/ejhg.2013.82

Wei, X, Dai, Y, Yu, P, Qu, N, Lan, Z, Hong, X, Sun, Y, Yang, G, Xie, S, Shi, Q, Zhou, H, Zhu, Q, Chu, Y, Yao, F, Wang, J, He, J, Yang, Y, Liang, Y, Yang, Y, Qi, M, Yang, L, Wang, W, Wu, H, Duan, J, Shen, C, Wang, J, Cui, L & Yi, X 2014, 'Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study', European Journal of Human Genetics, bind 22, s. 110-118. https://doi.org/10.1038/ejhg.2013.82

@article{4441625d5fbc42ef89c9635010d779a1,

title = "Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study",

keywords = "targeted NGS, genetic diagnosis, Duchenne and Becker muscular dystrophies, statistical analysis for CNVs, breakpoints",

author = "Xiaoming Wei and Yi Dai and Ping Yu and Ning Qu and Zhangzhang Lan and Xiafei Hong and Yan Sun and Guanghui Yang and Shuqi Xie and Quan Shi and Hanlin Zhou and Qian Zhu and Yuxing Chu and Fengxia Yao and Jinming Wang and Jingni He and Yun Yang and Yu Liang and Yi Yang and Ming Qi and Ling Yang and Wei Wang and Haitao Wu and Jing Duan and Cheng Shen and Jun Wang and Liying Cui and Xin Yi",

year = "2014",

month = jan,

doi = "10.1038/ejhg.2013.82",

language = "English",

volume = "22",

pages = "110--118",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "nature publishing group",

}

TY - JOUR

T1 - Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD

T2 - a multi-population diagnostic study

AU - Wei, Xiaoming

AU - Dai, Yi

AU - Yu, Ping

AU - Qu, Ning

AU - Lan, Zhangzhang

AU - Hong, Xiafei

AU - Sun, Yan

AU - Yang, Guanghui

AU - Xie, Shuqi

AU - Shi, Quan

AU - Zhou, Hanlin

AU - Zhu, Qian

AU - Chu, Yuxing

AU - Yao, Fengxia

AU - Wang, Jinming

AU - He, Jingni

AU - Yang, Yun

AU - Liang, Yu

AU - Yang, Yi

AU - Qi, Ming

AU - Yang, Ling

AU - Wang, Wei

AU - Wu, Haitao

AU - Duan, Jing

AU - Shen, Cheng

AU - Wang, Jun

AU - Cui, Liying

AU - Yi, Xin

PY - 2014/1

Y1 - 2014/1

KW - targeted NGS

KW - genetic diagnosis

KW - Duchenne and Becker muscular dystrophies

KW - statistical analysis for CNVs

KW - breakpoints

U2 - 10.1038/ejhg.2013.82

DO - 10.1038/ejhg.2013.82

M3 - Journal article

C2 - 23756440

SN - 1018-4813

VL - 22

SP - 110

EP - 118

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Adgang til dokumentet

Fingeraftryk

Citationsformater