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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: fung jlf. 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.
Coffin-Lowry syndrome in Chinese.
Fung JLF, Rethanavelu K, Luk HM, Ho MSP, Lo IFM, Chung BHY. Fung JLF, et al. Am J Med Genet A. 2019 Oct;179(10):2043-2048. doi: 10.1002/ajmg.a.61323. Epub 2019 Aug 9. Am J Med Genet A. 2019. PMID: 31400053
The epileptology of GNB5 encephalopathy.
Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG. Poke G, et al. Epilepsia. 2019 Nov;60(11):e121-e127. doi: 10.1111/epi.16372. Epub 2019 Oct 20. Epilepsia. 2019. PMID: 31631344
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: fung jlf. 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.
46 results