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Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT, Yu MHC, Chui MMC, Yeung CCW, Kwok AWC, Zhuang X, Lee R, Fung JLF, Lee M, Mak CCY, Ng NYT, Chung CCY, Chan MCY, Tsang MHY, Chan JCK, Chan KYK, Kan ASY, Chung PHY, Yang W, Lee SL, Chan GCF, Tam PKH, Lau YL, Yeung KS, Chung BHY, Tang CSM. Chau JFT, et al. Among authors: mak ccy. NPJ Genom Med. 2022 Mar 21;7(1):23. doi: 10.1038/s41525-022-00287-z. NPJ Genom Med. 2022. PMID: 35314707 Free PMC article.
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway.
Yeung KS, Chung BH, Choufani S, Mok MY, Wong WL, Mak CC, Yang W, Lee PP, Wong WH, Chen YA, Grafodatskaya D, Wong RW, Lau CS, Chan DT, Weksberg R, Lau YL. Yeung KS, et al. PLoS One. 2017 Jan 13;12(1):e0169553. doi: 10.1371/journal.pone.0169553. eCollection 2017. PLoS One. 2017. PMID: 28085900 Free PMC article.
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau Yim ET, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY. Mak ASL, et al. Among authors: mak ccy. Mol Autism. 2017 Jun 26;8:31. doi: 10.1186/s13229-017-0136-x. eCollection 2017. Mol Autism. 2017. PMID: 28670437 Free PMC article.
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B. Yeung KS, et al. Among authors: mak ccy. J Med Genet. 2018 Dec;55(12):847-852. doi: 10.1136/jmedgenet-2018-105328. Epub 2018 Jul 14. J Med Genet. 2018. PMID: 30007940
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu MH, Tsang MH, Lai S, Ho MS, Tse DML, Willis B, Kwong AK, Chou YY, Lin SP, Quinzii CM, Hwu WL, Chien YH, Kuo PL, Chan VC, Tsoi C, Chong SC, Rodenburg RJT, Smeitink J, Mak CC, Yeung KS, Fung JL, Lam W, Hui J, Lee NC, Fung CW, Chung BH. Yu MH, et al. NPJ Genom Med. 2019 Aug 5;4:18. doi: 10.1038/s41525-019-0091-x. eCollection 2019. NPJ Genom Med. 2019. PMID: 31396399 Free PMC article.
50 results