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Page 1
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.
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: chui mmc. Healthcare (Basel). 2022 Dec 13;10(12):2521. doi: 10.3390/healthcare10122521. Healthcare (Basel). 2022. PMID: 36554045 Free PMC article.
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: chui mmc. 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.
Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment.
Lai SHY, Duque JSR, Chung BH, Chung TW, Leung D, Ho RS, Lee R, Poon RWS, Chua GT, Cheong KN, Chui MMC, Lee M, Tam S, Him AHC, Cheng KF, Ho WW, Yuen KY, Lee P, Lau YL. Lai SHY, et al. Among authors: chui mmc. Int J Infect Dis. 2021 Jun;107:59-61. doi: 10.1016/j.ijid.2021.04.052. Epub 2021 Apr 16. Int J Infect Dis. 2021. PMID: 33872781 Free article.