Publications:

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Npj Genomic Medicine

Chau, Jeffrey Fong Ting JFT; Yu, Mullin Ho Chung MHC; Chui, Martin Man Chun MMC; Yeung, Cyrus Chun Wing CCW; Kwok, Aaron Wing Cheung AWC; Zhuang, Xuehan X; Lee, Ryan R; Fung, Jasmine Lee Fong JLF; Lee, Mianne M; Mak, Christopher Chun Yu CCY; Ng, Nicole Ying Ting NYT; Chung, Claudia Ching Yan CCY; Chan, Marcus Chun Yin MCY; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Chan, Kelvin Yuen Kwong KYK; Kan, Anita Sik Yau ASY; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Yeung, Kit San KS; Chung, Brian Hon Yin BHY; Tang, Clara Sze Man CSM

Publication Date: 2022-03-21

Variant appearance in text: PAH: 442-1G>A; rs62514907

PubMed Link: 35314707

Variant Present in the following documents:

• 41525_2022_287_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PAH: 442-1G>A; rs62514907

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Scientific Reports

Cho, Yangrae Y; Lee, Chul-Ho CH; Jeong, Eun-Goo EG; Kim, Min-Ho MH; Hong, Jong Hui JH; Ko, Younhee Y; Lee, Bomnun B; Yun, Gilly G; Kim, Byong Joon BJ; Jung, Jongcheol J; Jung, Jongsun J; Lee, Jin-Sung JS

Publication Date: 2017-08-29

Variant appearance in text: PAH: 442-1G>A; rs62514907

PubMed Link: 28851938

Variant Present in the following documents:

• Main text
• 41598_2017_9247_MOESM3_ESM.xls, sheet 1
• 41598_2017_Article_9247.pdf

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Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Plos One

Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J

Publication Date: 2014

Variant appearance in text: PAH: 442-1G>A; rs62514907

PubMed Link: 24705691

Variant Present in the following documents:

• pone.0094100.s009.xlsx, sheet 1

View BVdb publication page