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Whole genome sequencing in paediatric channelopathy and cardiomyopathy.
Kwok SY, Kwong AKY, Shi JZ, Shih CFY, Lee M, Mak CCY, Chui M, Tsao S, Chung BHY. Kwok SY, et al. Among authors: kwong aky. Front Cardiovasc Med. 2024 Mar 20;11:1335527. doi: 10.3389/fcvm.2024.1335527. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 38586174 Free PMC article.
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.
Exome sequencing in paediatric patients with movement disorders.
Kwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Kwong AK, et al. Orphanet J Rare Dis. 2021 Jan 15;16(1):32. doi: 10.1186/s13023-021-01688-6. Orphanet J Rare Dis. 2021. PMID: 33446253 Free PMC article.
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT, Au LKS, Lau YTE, Lo HM, Chan KYK, Cheung KW, Ma TWL, Leung WC, Kong CW, Shu W, So PL, Kwong AKY, Mak CCY, Lee M, Chui MMC, Chung BHY, Kan ASY. Lai THT, et al. Among authors: kwong aky. Healthcare (Basel). 2022 Dec 13;10(12):2521. doi: 10.3390/healthcare10122521. Healthcare (Basel). 2022. PMID: 36554045 Free PMC article.
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways.
Magrinelli F, Tesson C, Angelova PR, Salazar-Villacorta A, Rodriguez JA, Scardamaglia A, Chung BH, Jaconelli M, Vona B, Esteras N, Kwong AK, Courtin T, Maroofian R, Alavi S, Nirujogi R, Severino M, Lewis PA, Efthymiou S, O'Callaghan B, Buchert R, Sofan L, Lis P, Pinon C, Breedveld GJ, Chui MM, Murphy D, Pitz V, Makarious MB, Cassar M, Hassan BA, Iftikhar S, Rocca C, Bauer P, Tinazzi M, Svetel M, Samanci B, Hanağası HA, Bilgiç B, Obeso JA, Kurtis MM, Cogan G, Başak AN, Kiziltan G, Gül T, Yalçın G, Elibol B, Barišić N, Ng EW, Fan SS, Hershkovitz T, Weiss K, Raza Alvi J, Sultan T, Azmi Alkhawaja I, Froukh T, E Alrukban HA, Fauth C, Schatz UA, Zöggeler T, Zech M, Stals K, Varghese V, Gandhi S, Blauwendraat C, Hardy JA, Lesage S, Bonifati V, Haack TB, Bertoli-Avella AM, Steinfeld R, Alessi DR, Steller H, Brice A, Abramov AY, Bhatia KP, Houlden H. Magrinelli F, et al. medRxiv [Preprint]. 2024 Jun 20:2024.06.19.24308302. doi: 10.1101/2024.06.19.24308302. medRxiv. 2024. PMID: 39148840 Free PMC article. Preprint.
Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation.
Zhu S, Law AHY, Deng R, Poon ENY, Lo CW, Kwong AKY, Liang R, Chan KYK, Wong WL, Tan-Un KC, Pijnappel WWMP, Chan GCF, Chan SHS. Zhu S, et al. Among authors: kwong aky. Stem Cell Res. 2020 Dec;49:102040. doi: 10.1016/j.scr.2020.102040. Epub 2020 Oct 12. Stem Cell Res. 2020. PMID: 33099108 Free article.
29 results