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: CFTR: 648G>T

PubMed Link: 35314707

Variant Present in the following documents:

• Main text
• 41525_2022_Article_287.pdf

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Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine

Sakaguchi, Narumi N; Suyama, Mikita M

Publication Date: 2022-03-18

Variant appearance in text: CFTR: 648G>T; Trp216Cys; rs397508776

PubMed Link: 35304488

Variant Present in the following documents:

• 41525_2022_294_MOESM2_ESM.xlsx, sheet 1

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: rs397508776

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32

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Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology

Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S

Publication Date: 2018-04-02

Variant appearance in text: CFTR: W216C

PubMed Link: 29581173

Variant Present in the following documents:

• JGP_201711946_TableS1.pdf

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