Publications:

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Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.

Bmc Genomics

Wei, Si-Jie SJ; Du, Jin-Liang JL; Wang, Yue-Bing YB; Qu, Peng-Fei PF; Ma, Lin L; Sun, Zhong-Chun ZC; Tang, Xue X; Liu, Kai K; Xi, Yan-Mei YM; Nie, Sheng-Jie SJ; Jia, Peng-Lin PL; Long, Wu W; Qu, Yong-Qiang YQ; Li, Yu-Hua YH; Lei, Pu-Ping PP

Publication Date: 2023-01-31

Variant appearance in text: SULT1A2: 649G>T; Glu217*; rs138147609

PubMed Link: 36721086

Variant Present in the following documents:

• 12864_2022_9097_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: SULT1A2: E217X; rs138147609

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs138147609

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: SULT1A2: E217X

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

View BVdb publication page

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Energy metabolism and whole-exome sequencing-based analysis of Sasang constitution: a pilot study.

Integrative Medicine Research

Kim, Hyoung Kyu HK; Lee, Heetak H; So, Ji Ho JH; Jeong, Seung Hun SH; Seo, Dae Yun DY; Kim, Jong-Yeol JY; Kim, Sanguk S; Han, Jin J

Publication Date: 2017-06

Variant appearance in text: rs138147609

PubMed Link: 28664140

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.

Scientific Reports

Xie, Hua H; Li, Xiaoyan X; Peng, Jiping J; Chen, Qian Q; Gao, ZhiJie Z; Song, Xiaozhen X; Li, WeiYu W; Xiao, Jianqiu J; Li, Caihua C; Zhang, Ting T; Gusella, James F JF; Zhong, Jianmin J; Chen, Xiaoli X

Publication Date: 2017-03-23

Variant appearance in text: SULT1A2: 649G>T; E217*

PubMed Link: 28333167

Variant Present in the following documents:

• srep44271-s1.pdf

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Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?

Gut And Liver

Oh, Seak Hee SH; Baek, Jiwon J; Kim, Kyung Mo KM; Lee, Eun-Ju EJ; Jung, Yusun Y; Lee, Yeoun Joo YJ; Jin, Hyun-Seung HS; Ye, Byong Duk BD; Yang, Suk-Kyun SK; Lee, Jong-Keuk JK; Seo, Eul-Ju EJ; Lim, Hyun Taek HT; Lee, Inchul I; Song, Kyuyoung K

Publication Date: 2015-11-23

Variant appearance in text: SULT1A2: E217X; rs138147609

PubMed Link: 26503572

Variant Present in the following documents:

• Main text
• gnl-09-767.pdf

View BVdb publication page

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Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Plos One

Zhao, Yali Y; Zhao, Feifan F; Zong, Liang L; Zhang, Peng P; Guan, Liping L; Zhang, Jianguo J; Wang, Dayong D; Wang, Jing J; Chai, Wei W; Lan, Lan L; Li, Qian Q; Han, Bing B; Yang, Ling L; Jin, Xin X; Yang, Weiyan W; Hu, Xiaoxiang X; Wang, Xiaoning X; Li, Ning N; Li, Yingrui Y; Petit, Christine C; Wang, Jun J; Wang, Huanming Yang Jian HY; Wang, Qiuju Q

Publication Date: 2013

Variant appearance in text: SULT1A2: E217X

PubMed Link: 23936043

Variant Present in the following documents:

• Main text
• pone.0069549.pdf

View BVdb publication page

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