Leung GK - Search Results

1

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Leung GK, Ying D, Mak CC, Chen XY, Xu W, Yeung KS, Wong WL, Chu YW, Mok GT, Chau CS, McLuskey J, Ong WP, Leong HY, Chan KY, Yang W, Chen JH, Li AM, Sham PC, Lau YL, Chung BH, Lee SL. Leung GK, et al. Mol Genet Genomic Med. 2016 Nov 13;5(1):40-49. doi: 10.1002/mgg3.258. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116329 Free PMC article.

2

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.

Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Gu S, et al. Among authors: leung gk. Hum Mutat. 2016 Feb;37(2):160-4. doi: 10.1002/humu.22929. Epub 2015 Dec 2. Hum Mutat. 2016. PMID: 26549411 Free PMC article.

3

Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome.

Chiu AT, Zhu L, Mok GT, Leung GK, Chow CB, Chung BH. Chiu AT, et al. Among authors: leung gk. Eur J Med Genet. 2016 Nov;59(11):573-576. doi: 10.1016/j.ejmg.2016.10.001. Epub 2016 Oct 2. Eur J Med Genet. 2016. PMID: 27705751

4

Noonan syndrome in diverse populations.

Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. Kruszka P, et al. Am J Med Genet A. 2017 Sep;173(9):2323-2334. doi: 10.1002/ajmg.a.38362. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748642 Free PMC article.

5

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.

Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM, Nambot S, Faivre L, Bruel AL, Rossi M, Isidor B, Küry S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY. Chiu ATG, et al. Clin Genet. 2018 Apr;93(4):880-890. doi: 10.1111/cge.13196. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 29240241

6

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients.

Mak CCY, Chow PC, Liu APY, Chan KYK, Chu YWY, Mok GTK, Leung GKC, Yeung KS, Chau AKT, Lowther C, Scherer SW, Marshall CR, Bassett AS, Chung BHY. Mak CCY, et al. NPJ Genom Med. 2016 Sep 14;1:16033. doi: 10.1038/npjgenmed.2016.33. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263819 Free PMC article.

7

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Leung GKC, Luk HM, Tang VHM, Gao WW, Mak CCY, Yu MHC, Wong WL, Chu YWY, Yang WL, Wong WHS, Ma ACH, Leung AYH, Jin DY, Chan KYK, Allanson J, Lo IFM, Chung BHY. Leung GKC, et al. Sci Rep. 2018 Feb 5;8(1):2421. doi: 10.1038/s41598-018-20894-0. Sci Rep. 2018. PMID: 29402968 Free PMC article.

8

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC, Leung GK, Mok GT, Yeung KS, Yang W, Fung CW, Chan SH, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BH. Mak CC, et al. Among authors: leung gk. NPJ Genom Med. 2018 Aug 6;3:19. doi: 10.1038/s41525-018-0056-5. eCollection 2018. NPJ Genom Med. 2018. PMID: 30109123 Free PMC article.

9

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. 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.

10

A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.

Fung JLF, Tsang MHY, Leung GKC, Yeung KS, Mak CCY, Fung CW, Chan SHS, Yu MHC, Chung BHY. Fung JLF, et al. Parkinsonism Relat Disord. 2019 Jun;63:42-45. doi: 10.1016/j.parkreldis.2019.01.013. Epub 2019 Jan 17. Parkinsonism Relat Disord. 2019. PMID: 30670339

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