MBBS(Hons), MRCPCH, DCH(Ireland), FHKAM(Paediatrics), Clinical Research Fellowship in Clinical & Metabolic Genetics (The Hospital for Sick Children, Canada), FCCMG(Clinical Genetics), MSc(Genomics and Bioinformatics)

Clinical Associate Professor
Department of Paediatrics and Adolescent Medicine,
LKS Faculty of Medicine,
The University of Hong Kong
 

Specialty
Clinical Genetics

Awards

Research

Medical application of whole-genome technologies

• Genetic Diagnosis of RASopathies using Next Generation Sequencing
• Exome/whole genome sequencing of patients with congenital heart disease/neurodevelopmental disorders
• Whole exome sequencing of families with rare genetic syndromes

Clinical Genetics & Genetic Counselling

• Disease burden, clinical manifestations & natural history of genetic syndromes
• Communication/discourse analysis in genetic counseling in different clinical settings including inherited arrhythmia clinics, prenatal diagnosis, preimplantation genetic diagnosis (in collaboration with Dr Olga Zayts, Dept of English, HKU)

Epigenetics and Human Disease

• Whole genome DNA methylation studies in Chinese patients with SLE
• Childhood imprinting disorders

Selected publications

Recent significant Publications:

• Grafodatskaya D*, Chung BHY*, Butcher DT, Turinsky AL, Goodman SJ, Choufan S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE and Weksberg R. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 demethylase KDM5C. BMC Medical Genomics 2013;6(1):1-18. [*equal contributions]

• Grafodatskaya D, Chung BHY, Szatmari P and Weksberg R. Autism Spectrum Disorders and Epigenetics (with Editorial Comments). Journal of the American Academy of Child & Adolescent Psychiatry 2010;49(8):794-809.

• Chung BHY, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulous DJ, Elsea SH and Mendoza-Londono R. Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics 2012; 20(4):398-403.

• Fernandez BA, Roberts W, Chung BHY, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic Spectrum Associated with De Novo and Inherited Deletions and Duplications at 16p11.2 in Individuals Ascertained for Diagnosis of Autism Spectrum Disorder. Journal of Medical Genetics 2010;47(3):195-203.

• Chung BHY, Hinek A, Keating S, Weksberg R, Shah V, Blaser S, Hawkins C, Chitayat D. Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? American Journal of Medical Genetics Part A 2012;158A(10):2373-2381.

• Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Badeer GD, Bailey AJ, Baird G, Battaglia A. Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BHY,..., Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010;466(7304):368-372.

Full publication list

Education 

Books and book chapters

Clinical Service

Clinical Genetics 臨床遺傳科

External Competitive Grants funded as Principle Investigator

RGC-General Research Fund: #HKU7653/11M, and #HKU7655/13M
Hong Kong Children's Heart Foundation 2011-2013, and 2013-2014 (#AR120015)
SK Yee Medical Foundation #212210, #211203, and #213217
SK Yee Medical Research Grants 2012-2015
Children's Catastrophic Disease Foundation 2013