Yeung KS - Search Results

1

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. 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

2

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.

Seto MT, Bertoli-Avella AM, Cheung KW, Chan KY, Yeung KS, Fung JL, Beetz C, Bauer P, Luk HM, Lo IF, Lee CP, Chung BH, Kan AS. Seto MT, et al. Among authors: yeung ks. Am J Med Genet A. 2021 Feb;185(2):384-389. doi: 10.1002/ajmg.a.61964. Epub 2020 Nov 9. Am J Med Genet A. 2021. PMID: 33166031

3

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.

Tsang MH, Leung GK, Ho AC, Yeung KS, Mak CC, Pei SL, Yu MH, Kan AS, Chan KY, Kwong KL, Lee SL, Yung AW, Fung CW, Chung BH. Tsang MH, et al. Among authors: yeung ks. Epilepsia Open. 2018 Dec 6;4(1):63-72. doi: 10.1002/epi4.12282. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868116 Free PMC article.

4

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study; Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Cyrus SS, et al. Among authors: yeung ks. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17. Am J Med Genet C Semin Med Genet. 2019. PMID: 31736240

5

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.

Yeung KS, Tso WWY, Ip JJK, Mak CCY, Leung GKC, Tsang MHY, Ying D, Pei SLC, Lee SL, Yang W, Chung BH. Yeung KS, et al. Mol Autism. 2017 Dec 20;8:66. doi: 10.1186/s13229-017-0182-4. eCollection 2017. Mol Autism. 2017. PMID: 29296277 Free PMC article.

6

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.

Tung JY, Lai SHY, Au SLK, Yeung KS, Kan ASY, Loong F, DeLeón DD, Kalish JM, Ganguly A, Chung BHY, Chan KYK. Tung JY, et al. Among authors: yeung ks. Int J Pediatr Endocrinol. 2020;2020:13. doi: 10.1186/s13633-020-00083-5. Epub 2020 Jul 10. Int J Pediatr Endocrinol. 2020. PMID: 32670376 Free PMC article.

7

Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.

Yu MHC, Mak CCY, Fung JLF, Lee M, Tsang MHY, Chau JFT, Chung PH, Yang W, Chan GCF, Lee SL, Lau YL, Tam PKH, Tang CSM, Yeung KS, Chung BHY. Yu MHC, et al. Among authors: yeung ks. J Hum Genet. 2021 Jun;66(6):637-641. doi: 10.1038/s10038-020-00875-w. Epub 2020 Nov 22. J Hum Genet. 2021. PMID: 33223521

8

Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.

Yu MHC, Chau JFT, Au SLK, Lo HM, Yeung KS, Fung JLF, Mak CCY, Chung CCY, Chan KYK, Chung BHY, Kan ASY. Yu MHC, et al. Among authors: yeung ks. Front Genet. 2021 Jan 27;11:620162. doi: 10.3389/fgene.2020.620162. eCollection 2020. Front Genet. 2021. PMID: 33584815 Free PMC article.

9

Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus.

Yeung KS, Lee TL, Mok MY, Mak CCY, Yang W, Chong PCY, Lee PPW, Ho MHK, Choufani S, Lau CS, Lau YL, Weksberg R, Chung BHY. Yeung KS, et al. Epigenetics. 2019 Apr;14(4):341-351. doi: 10.1080/15592294.2019.1585176. Epub 2019 Mar 16. Epigenetics. 2019. PMID: 30806140 Free PMC article.

10

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Yu MHC, Chan MCY, Chung CCY, Li AWT, Yip CYW, Mak CCY, Chau JFT, Lee M, Fung JLF, Tsang MHY, Chan JCK, Wong WHS, Yang J, Chui WCM, Chung PHY, Yang W, Lee SL, Chan GCF, Tam PKH, Lau YL, Tang CSM, Yeung KS, Chung BHY. Yu MHC, et al. Among authors: yeung ks. PLoS Genet. 2021 Feb 18;17(2):e1009323. doi: 10.1371/journal.pgen.1009323. eCollection 2021 Feb. PLoS Genet. 2021. PMID: 33600428 Free PMC article.

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