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American Journal of Medical Genetics. Part A|March 22, 2020
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndromeBrooke R Willis, Mianne Lee, Kavitha Rethanavelu, et al.
JIMD Reports|June 27, 2019
A fatal case of COQ7-associated primary coenzyme Q10 deficiencyAnna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, et al.
American Journal of Medical Genetics. Part A|November 23, 2019
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndromeKavitha Rethanavelu, Jasmine L F Fung, Jeffrey F T Chau, et al.
Clinical Dysmorphology|January 31, 2018
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian childrenKris P T Yu, Ho-Ming Luk, Christopher T Gordon, et al.
Molecular Genetics & Genomic Medicine|May 18, 2021
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, ChinaMan Wai Cecilia Yu, Jasmine Lee Fong Fung, Amy Pui Pui Ng, et al.
Scientific Reports|December 14, 2021
Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra)Claudia C Y Chung, Jasmine L F Fung, Adrian C Y Lui, et al.
European Journal of Medical Genetics|October 16, 2012
A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?Alvin C C Ho, Anthony P Y Liu, K S Lun, et al.
Journal of the American Heart Association|February 15, 2023
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden AnalysesMartin M C Chui, Christopher C Y Mak, Mullin H C Yu, et al.
Nature Communications|April 23, 2026
Mapping glioblastoma's isoform diversity using long-read single-cell analysisWenshu Tang, Cario W S Lo, Annie T W Chu, et al.
European Journal of Human Genetics : EJHG|November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.
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