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Year Number of Results
2017 1
2018 1
2019 1
2020 3
2021 2
2022 3
2023 2
2024 0

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11 results

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Page 1
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J; Undiagnosed Diseases Network; Wang X, Miller MJ, Bi W, Liu P, Scaglia F. Chong SC, et al. Am J Med Genet A. 2023 Mar;191(3):776-785. doi: 10.1002/ajmg.a.63074. Epub 2022 Dec 19. Am J Med Genet A. 2023. PMID: 36537114
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Wong TS, Belaramani KM, Chan CK, Chan WK, Chan WL, Chang SK, Cheung SN, Cheung KY, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Lee WC, Lee HH, Lee CN, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui HT, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Ng SF, Poon WG, Rodenburg R, Sheng B, Smeitink J, Szeto CC, Tai SM, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Young PT, Yuan G, Yuen YL, Yuen CL, Fung CW. Wong TS, et al. Orphanet J Rare Dis. 2023 Mar 2;18(1):43. doi: 10.1186/s13023-023-02632-6. Orphanet J Rare Dis. 2023. PMID: 36859275 Free PMC article.
Low-pass genome sequencing: a validated method in clinical cytogenetics.
Chau MHK, Wang H, Lai Y, Zhang Y, Xu F, Tang Y, Wang Y, Chen Z, Leung TY, Chung JPW, Kwok YK, Chong SC, Choy KW, Zhu Y, Xiong L, Wei W, Dong Z. Chau MHK, et al. Among authors: chong sc. Hum Genet. 2020 Nov;139(11):1403-1415. doi: 10.1007/s00439-020-02185-9. Epub 2020 May 25. Hum Genet. 2020. PMID: 32451733
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Peng Y, et al. Among authors: chong sc. Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Hum Mol Genet. 2017. PMID: 29040572 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. Among authors: chong sc. 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.
11 results