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CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK, Ying D, Mak CC, Chen XY, Xu W, Yeung KS, Wong WL, Chu YW, Mok GT, Chau CS, McLuskey J, Ong WP, Leong HY, Chan KY, Yang W, Chen JH, Li AM, Sham PC, Lau YL, Chung BH, Lee SL. Leung GK, et al. Among authors: yeung ks. Mol Genet Genomic Med. 2016 Nov 13;5(1):40-49. doi: 10.1002/mgg3.258. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116329 Free PMC article.
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY, Chiu ATG, Kwong BMH, Liang R, Yu MHC, Yeung KS, Ho WHL, Mak CCY, Leung GKC, Pei SLC, Fung JLF, Wong VCN, Muntoni F, Chung BHY, Chan SHS. Tsang MHY, et al. Among authors: yeung ks. Mol Genet Genomic Med. 2020 May;8(5):e1205. doi: 10.1002/mgg3.1205. Epub 2020 Mar 10. Mol Genet Genomic Med. 2020. PMID: 32154989 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34504102
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY, Leung GKC, Mak CCY, Fung JLF, Lee M, Pei SLC, Yu MHC, Hui VCC, Chan JCK, Chau JFT, Chan MCY, Tsang MHY, Wong WHS, Tung JYL, Lun KS, Ng YK, Fung CW, Wong MSC, Wong RMS, Lau YL, Chan GCF, Lee SL, Yeung KS, Chung BHY. Chung CCY, et al. Among authors: yeung ks. Lancet Reg Health West Pac. 2020 Jul 24;1:100001. doi: 10.1016/j.lanwpc.2020.100001. eCollection 2020 Aug. Lancet Reg Health West Pac. 2020. PMID: 34327338 Free PMC article.
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Leung GKC, Mak CCY, Fung JLF, Wong WHS, Tsang MHY, Yu MHC, Pei SLC, Yeung KS, Mok GTK, Lee CP, Hui APW, Tang MHY, Chan KYK, Liu APY, Yang W, Sham PC, Kan ASY, Chung BHY. Leung GKC, et al. Among authors: yeung ks. BMC Med Genomics. 2018 Oct 25;11(1):93. doi: 10.1186/s12920-018-0409-z. BMC Med Genomics. 2018. PMID: 30359267 Free PMC article.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY. Yeung KS, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1229. doi: 10.1002/mgg3.1229. Epub 2020 Apr 30. Mol Genet Genomic Med. 2020. PMID: 32352246 Free PMC article.
107 results