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Dr Chung, Brian Hon Yin 鍾侃言

Clinical Associate Professor

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2255 4482

Dr Chung, Brian Hon Yin 鍾侃言

Clinical Associate Professor

Also Cited As:
Chung, B


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

Clinical Genetics



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













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 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


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






(852) 22554482

(852) 28551523

Department of Paediatrics & Adolescent Medicine
Room 115, 1/F, New Clinical Building
102 Pokfulam Road, Queen Mary Hospital, Hong Kong

Honours, Awards & Prizes
AwardeesAward DateHonours / Awards / PrizesCategory
2010-09-01In-vitro treatment with pravastain & dexamethasone normalizes abnormal deposition of elastic fibers in dermal fibroblasts derived from patients with restrictive dermopathy - possible therapeutic implications?: 31st Annual David W. Smith Workshop on Malformations and Morphogenesis, Seattle, USA, 27 August – 1 September 2010. [Fellow Award]
Teaching Accomplishment
2009-08-09From VACTERL-H to Heterotaxy - Variable Expressivity of ZIC3-related disorders: 30th Annual David W Smith Workshop on Malformations and Morphogenesis, Philadelphia, USA, 5-9 August 2009. [Fellow Award]
Teaching Accomplishment
2010-10-23Genome-wide epigenetic profiling shows evidence of crosstalk between histone modifications and DNA methylation in patients with the intellectual disability syndrome due to JARID1C mutations: Best basic research in the Department of Paediatrics Annual Research Day. Hospital for Sick Children, Toronto, 23 October 2010
Research Achievement
2005-11-01Clinical Markers Useful in Enhancing Diagnostic Yield for Children with Global Developmental Delay (GDD) [Silver Medal in Best Original Research Contest]: HK Academy of Medicine
Research Achievement
2010-02-01Runner up poster presenter: Teaching and Learning Medical Genetics - An Interactive Workshop for Undergraduate Medical Students: 7th Asia Pacific Medical Education Conference
Teaching Accomplishment
Tsang, AMC
2012-03-01HKWC’s Outstanding Team Award : K7 General Paediatric Team, P&AM, QMH
Research Achievement
2010-10-23Crosstalk between histone modificiations and DNA methylation in patients with intellectual disability due to JARID1C mutations: Canadian College of Medical Genetics. 34th Annual Scientific Meeting, Halifax, Nova Scotia, 21-23 October 2010. [One of the top 4 submissions]
Teaching Accomplishment
Professional Societies
Term PeriodPositionProfessional Societies
2012-presentReviewerPLoS ONE
2014-presentReviewerBMC Genetics
2010-presentMemberAmerican Society of Human Genetics
2014-presentMember, representing College of PaediatriciansGenetic Genomic Working Group, HK Academy of Medicine
2012-presentLife-time memberAmerican Chinese Geneticists Association
2001-2004Medical CounsellerChildren Heart Foundation
2006DirectorHong Kong Society of Medical Genetics
2008-2010Board of DirectorsHong Kong Society of Medical Genetics
2012-presentReviewerBritish Medical Journal
2014-presentReviewerHong Kong Journal of Paediatrics
2008Organising Committee MemberACGA-HKSMG International Conference on Genetic and Genomic Medicine, Association of Chinese Geneticists in America & the HK Society of Medical Genetics
2014-presentMemberTask Force on Constitutional Genetics, HK Children Hospital
2011MemberMember of the research team from HKU and publications of members related to Agamma and other primary immunodeficiency
2010Life-Time memberAsia Pacific Society of Human Genetics
2014ReviewerMRC Peer Review
2012-presentReviewerThe Journal of Genetic Counselling
MemberTrainee Subcommittee, Education & Training Committee, Hong Kong College of Paediatricians
2006MemberHong Kong Society for Paediatric Immunology and Infectious Diseases
2012-presentChief EditorHong Kong Paediatric Journal
2012-presentMemberEuropean Society of Human Genetics
2006Organising CommitteeCollaborative Autism Symposium, a joint event of HKU & University of Toronto, Canada
2014-presentReviewerDiagnostic Pathology
2012Associate MemberPartner State Key Laboratory
2014-presentHonorary SecretaryHK Journal of Paediatrics
2008Group MemberGlobal Developmental Delay Initiative's International Consensus Criteria Conference
MemberHong Kong Medical Association
2012-presntReviewerHong Kong Medical Journal
MemberHong Kong Paediatric Society
FellowHong Kong College of Paediatricians
2014-2015Member of the Scientific & Resarch SubcommitteeHong Kong College of Paediatricians
2014ReviewerResearch in Autism Spectrum Disorder
2015ReviewerJournal of Human Genetics
2014ReviewerOrphanet Journal of Rare Diseases
2014ReviewerInternational Journal of Rheumatic Diseases
2015Executive Committee MemberLittle People of Hong Kong
2015Medical AdvisorHK Fragile X Syndrome Association
2015ReviewerHong Kong Journal of Paediatrics
2015ReviewerEuropean Journal of Pediatrics
2015Medical AdvisorHK Angelman Syndrome Foundation
2015Executive Board MemberHong Kong Rare Disease Alliance
2015Medical AdvisorHK Marfan Syndrome Association
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