Research Scope

An overview of research focus

Our research focus on understanding the genetic etiology of undiagnosed genetic disorders, including neurodevelopmental disorders, birth defects. Applying state-of-art techniques we aim to discover the novel disease-causing genes, investigate the genotype and phenotype of the human diseases and traits which would provide patients a better and personalized treatment.

A list of research topics

• Undiagnosed genetics disorders

• Neuro-metabolic genetics

• Inborn errors of metabolism disorders

• Genomic identification and functional characterization of disease-causing genes

• Constitutional mosaicism in the human diseases and traits

Selected publications

1. Chan OYM, Leung TY, Cao Y, Shi MM, Kwan AHW, Chung JPW, Choy KW, Chong SC. Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study. Hong Kong Med J. 2021 Jun;27(1):177-183.

2. Ravenscroft TA, …, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Oct;23(10):1889-1900

3. Ernst ME, Baugh EH, .. Chong JSC, …. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 Jul;62(7):e103-e109. Epub 2021 May 26.

4. 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. Low-pass genome sequencing: a validated method in clinical cytogenetics. Hum Genet. 2020 Nov;139(11):1403-1415.

5. Chong SC, Hon KL, Yuen LYP, Choi PCL, Ng WGG, Chiu TW. Neonatal epidermolysis bullosa: lessons to learn about genetic counseling. J Dermatolog Treat. 2021 Feb;32(1):29-32.

6. Chong SC, Lo P, Chow CW, Yuen L, Chu WCW, Leung TY, Hui J, Scaglia F. Molecular and clinical characterization of citrin deficiency in a cohort of Chinese patients in Hong Kong. Mol Genet Metab Rep. 2018 Sep 1;17:3-8.

7. Cao Y, Manning M, Pope K, He W, Vetrini F, Siskind C, Rosenfeld JA, Yang Y, Xiao R. Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia. Clin Genet. 2021 Mar;99(3):477-480.

8. Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL. Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. Am J Hum Genet. 2020 Jan 2;106(1):129-136.

9. Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med. 2019 Jul 26;11(1):48.

10. Cao Y, Li Z, Rosenfeld JA, Pursley AN, Patel A, Huang J, Wang H, Chen M, Sun X, Leung TY, Cheung SW, Choy KW. Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genet Med. 2016 Oct;18(10):1052-5.

Grants 

1. Study title: Uncovering the novel genetic lesions through systematic reanalysis of whole genome sequencing data: a pilot study on NT cohort

Funding source: CUHK Direct Grant

Study period: 1 Jul 2021 to 30 Jun 2022

Reference number: 2020.074

Collaborative works

Collaborating with Department of Obstetrics & Gynaecology, CUHK, the Baylor College of Medicine, USA to establish the Joint BCM-CUHK Center for Medical Genetics.