ORCID iD
https://orcid.org/0000-0002-7044-5916
  • Keywords
  • Show details Hide details
Clinical Genetics & Genetic Counseling,

Sources:
University of Hong Kong (2014-05-07)

Epigenetics and Human Disease,

Sources:
University of Hong Kong (2014-05-07)

Medical application of whole-genome technologies

Sources:
University of Hong Kong (2014-05-07)

  • Other IDs
  • Show details Hide details
ResearcherID: C-4256-2009

Sources:
University of Hong Kong (2014-05-07)

Scopus Author ID: 7203043997

Sources:
University of Hong Kong (2014-05-07)

HKU ResearcherPage: rp00473

Sources:
University of Hong Kong (2014-05-07)

Biography

Dr Brian Hon-Yin Chung (鍾侃言) 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 2013- Outstanding Oral Presentation Award - Identifying genetic mutations in patients with RASopathies using a new generation sequencing diagnostic pipeline in Hong Kong; Annual Scientific Meeting 2013, Hong Kong College of Paediatricians 2013- Outstanding Poster Presentation Award - Integration of chromosomal microarray into paediatric clinical care in Hong Kong; Annual Scientific Meeting 2013, Hong Kong College of Paediatricians 2013- Certificate of Excellence - Master of Science in Genomics & Bioinformatics; Division of Genomics & Bioinformatics, CUHK-BGI Innovation Institute of Trans-omics 2012- Outstanding Team award - The Hong Kong West Cluster 2010 - 10-year Loyalty Award - Queen Mary Hospital 2010- First Runner-up Best Poster Presentation - 7th Asia Pacific Medical Education Conference (APMEC) 2010- One of the Top 4 submissions - 34th Annual Scientific Meeting, Canadian College of Medical Genetics 2009&2010- Fellow Award - 30th Annual David W. Smith Workshop on Malformations and Morphogenesis 2005- Silver Medal in Best Original Research Contest - Clinical Markers Useful in Enhancing Diagnostic Yield for Children with Global Developmental Delay (GDD); HK Academy of Medicine 2005- Most Outstanding Free Paper - (SMARD1) Spinal muscular atrophy with respiratory distress type 1 mutation in a Chinese boy; The 3rd Hong Kong Genetic Symposium 2005 Research Medical application of whole-genome technologies Using cutting-edge technologies including CNV arrays, whole exome/genome sequencing and detailed phenotypic evaluation, we identify novel variants/genes involved in the pathogenesis of human diseases. Current projects include: 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 Epigenetics is the study of heritable changes in gene expression or cellular phenotype caused by mechanisms other than changes in the underlying DNA sequence and it includes DNA methylation, chromatin remodeling, RNAi and prions/structural inheritance systems. Using various technologies including bisulphite-converted DNA pyrosequencing, MLPA and whole genome DNA methylation arrays, we study various common and rare disorders in which epigenetics and imprinting is implicated in the pathogenesis. Current projects include: 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