Dr Brian Hon-Yin Chung (鍾侃言)

MBBS(Hons, HKU), MSc(Genomics and Bioinformatics, CUHK), MD(HKU)

DCH(Ireland), MRCPCH (UK), FHKAM(Paediatrics), FRCPCH(UK), FCCMG(Clinical Genetics, Canada)



Clinical Associate Professor

Department of Paediatrics and Adolescent Medicine,

LKS Faculty of Medicine, The University of Hong Kong




Clinical Genetics & Genomics








(852) 2255-4482

(852) 2855-1523

Department of Paediatrics & Adolescent Medicine

Room 115, 1/F, New Clinical Building

102 Pokfulam Road, Queen Mary Hospital, Hong Kong



  1. Best Paper Award - Teaching and Learning Physical Examination in the Clinical Setting: Authentic Assessment of Multi-domain Competencies for Independent Professional Practice; 2019 World Federation for Medical Education World Conference (shared with Dr Pamela Lee)
  2. Sir Patrick Manson Gold Medal (2018) - Clinical application of whole-genome technologies on Paediatric-onset rare diseases
  3. Faculty Teaching Medal (2018)
  4. Audience Award, Free paper, Frontiers in Medical and Health Sciences Education (2018, shared with Dr Pamela Lee)
  5. Award of Merit, Free paper, Frontiers in Medical and Health Sciences Education (2018, shared with Dr Pamela Lee)
  6. Best Young Investigator Prize - Hong Kong College of Paediatricians (2017)
  7. Knowledge Exchange Awards 2017 - Little People Care Alliance; LKS Faculty of Medicine (2017, shared)
  8. Long Service Awards, After 15 Years of Service; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong (2016)
  9. 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)
  10. 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)
  11. Certificate of Excellence - Master of Science in Genomics & Bioinformatics; Division of Genomics & Bioinformatics, CUHK-BGI Innovation Institute of Trans-omics (2013)
  12. Outstanding Team award - The Hong Kong West Cluster (2012)
  13. 10-year Loyalty Award - Queen Mary Hospital (2010)
  14. First Runner-up Best Poster Presentation - 7th Asia Pacific Medical Education Conference (APMEC) (2010)
  15. One of the Top 4 submissions - 34th Annual Scientific Meeting, Canadian College of Medical Genetics (2010)
  16. Best Basic Research - Annual Research Day, Paediatrics, Hospital for Sick Children, Toronto (2010)
  17. Fellow Award - 30th Annual David W. Smith Workshop on Malformations and Morphogenesis (2009 & 2010)
  18. 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)
  19. 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 (2005)


Research ID


HKU Scholars Hub


Google Scholar ID

Scopus ID





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:

  1. Choufani, S, Cytrynbaum C, Chung BHY, Turinsky A, Grafodatskaya D, Chen YA, Cohen A, Dupuis L, Butcher D, Siu MT, Luk HM, Lo I, Lam S, Caluseriu O, Stavropoulos D, Reardon W, Mendoza-Londono R, Brudno M, Gibson W, Chitayat D, Weksberg R.  NSD1 mutations generate a genome-wide DNA methylation signature.  Nature Communications 2015;6:10207. (IF11.88)


    After successfully identifying a germline DNA methylation signature in patient with mutation in KDM5C (Grafodatskaya D*, Chung BHY* et al. BMC Medical Genomics 2013;6:1-18), we herewith identified a NSD1-specific DNA methylation signature in Sotos Syndrome and that loss of function NSD1 mutation can deregulate the transcriptional balance of key developmental genes.  My role is to recruit & analyze a Chinese-specific cohort of patients with Soto Syndrome for validation of finding in the primary cohort. This work opens a new field of research in evaluating the diagnostic utility of genome-wide DNA methylation in individuals with unsolved genetic syndromes.


  2. Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Chung BHY,  Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.  Journal of Medical Genetics 2018;0(1-6) doi: 10.1136/jmedgenet-2018-105328 (IF 5.751)


    Uniparental disomy (UPD) occurs when a person obtains both copies of the homologous chromosome from one parent. UPD can be associated with human diseases caused by disruption of genomic imprinting or homozygosity for a recessive trait. In this report, we describe the first human case of paternal UPD for chromosome 19 in monozygotic twins showing dysmorphic features and global developmental delay. Comprehensive genetics and DNA methylation analysis suggested that imprinting defects were considered a potentially important mechanism to explain the clinical features of the twins.


  3. Mak CCY, Leung GKC, Mok GTK, Yeung KS, Yang WL, Fung CW, Chan SHS, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BHY.  Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.   Npj Genomic Medicine 2018;3:19  doi: 10.1038/s41525-018-0056-5 (IF 4.422)


    Working with children predominantly of Han Chinese origin, we sequenced the entire protein-coding portion of the genome for 104 patients with pediatric-onset genetic disease. We analyzed the DNA data to resolve any ambiguous interpretations, link the molecular findings with clinical records, identify ethnic-specific differences and, when necessary, request additional assays. This extra review process was sometimes laborious, taking several hours of the physician’s time, but ultimately led to a more comprehensive assessment in 16 of the 43 diagnoses successfully made. This overall diagnostic yield—41%—was comparable to previous studies in other populations.


  4. Yeung KS, Tso WWY, Ip JJK, Mak CCY, Leung GKC, Tsang MHY, Ying D, Pei SLC, Lee SL, Yang W, Chung BHY.  Identification of mutations in the PI3K-AKT-mTOR signaling pathway in patients with macrocephaly and developmental delay and/or autism.  Molecular Autism 8:66. Doi: 10.1186/s13229-017-0182-4 (IF 6.283)


    This study illustrated that in patients with autism and/or developmental delay who also have macrocephaly, mutations in the PI3K-AKT-mTOR signaling pathway can be identified in nearly half of them. Both germline and somatic mosaicism can be the cause. This study showed that genetic testing should not be limited to PTEN, but also other genes in the PI3K-AKT-mTOR signaling pathway. In addition, sequencing should be performed with higher sequencing depth and in other tissues in order to detect low level of mosaicism.


  5. Chiu ATG, Chung CCY, Wong WHS, Lee SL, Chung BHY.  Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets.  Orphanet Journal of Rare Diseases 2018:12:147 [doi: https://doi.org/10.1186/s13023-018-0892-5] (IF 4.299)


    In this study, we have set out to cross reference ORPHA codes and ICD-10 to identify rare diseases-related admissions in health administrative datasets in Hong Kong. In the 7-million populations, the prevalence of rare diseases was found to be 1 in 67, representing 1.5% of the whole population. This placed the estimated total inpatient cost for rare disease population at HKD$1,594,339,530 i.e. 4.3% of total inpatient cost in 2015-2016. The disparity reflects the importance of rare diseases in healthcare policies. This study for the first time provides information on healthcare burden of rare diseases in Hong Kong.

  6. Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan KYK, Tang MHY, Lau ETK, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL, Marshall CR, Scherer SW, Kan ASY, Chung BHY. Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder – implications of a copy number variation involving DPP10. Molecular Autism 2017; 8:31 (IF 6.283)


    To our knowledge this is the 3rd study on CNVs in Chinese with ASD, and the largest series reporting on DPP10-related CNV in normal individuals. The results have not only substantiated the genetic heterogeneity inherent to ASD, but also allowed for the reclassification of DPP10-related CNVs as a Chinese specific copy number polymorphism. Our findings illustrated the importance of using ancestry-matched controls and keeping a local genomic database when characterizing the clinical relevance of rare genetic variants in a population. I was awarded the Best Young Investigator Prize by the Hong Kong College of Paediatricians in 2017.


  7. Leung GKC, Luk HM, Tang VHM, Gao WW, Mak CCY, Yu MHC, Wong WL, Chu YWY, Yang W, Wong WHS, Ma ACH, Leung AYH, Jin DY, Chan KYK, Allanson J, Lo IFM, Chung BHY. Integrating functional analysis in the next-generation sequencing diagnostic pipeline of RASopathies.  Scientific Reports 2018:8(1): 2421.  doi:10.1038/s41598-018-20894-0. (IF 4.525)


    The publication looked into the potential of an integrated pipeline combining NGS and the functional assessment of variants for the diagnosis of RASopathies. In these patients, we performed a genetic analysis of genes associated with RASopathies using a multigene NGS panel and Sanger sequencing. For the VUSs, we evaluated evidence from functional data using in vitro dual luciferase assay and in vivo transient expression of RNA in zebrafish embryos. We showed that integration of functional analysis improved the diagnostic yield of RASopathies-associated gene panel from 31.7% to 36.5%.


  8. Fung JLF, Chung BHY. A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35. Parkinsonism and Related Disorders 2019. doi: 10.1016/j.parkreldis.2019.01.013 (IF 4.372)


    Pathogenic mutations in TGM6 have been associated with autosomal dominant spinocerebellar ataxia 35 (SCA35). In the article, we questioned the pathogenicity of TGM6 variants in causing SCA35 as we identified 8 families with reported pathogenic variants in TGM6 with no features of SCA. In addition, the frequency of TGM6 variant carrier in the population is at least 111-fold of the disease prevalence of SCA. This highlights the necessity of including sequencing of genomes from diverse populations, both from asymptomatic controls and phenotypically different patients, in order to ensure accurate classification of variants.


  9. Zayts O, Shipman H, Fung JLF, Liu APY, Kwok SY, Tsai ACH, Yung TC, Chung BHY. The different facets of ‘culture’ in genetic counselling: A situated analysis of genetic counselling in Hong Kong.  American Journal of Medical Genetics Part C; 2019 [doi:10.1002/ajmg.c.31699]. (IF 5.683)


    This manuscript was included in “Clinical Genetics in Asia”, AJMG Part C in June 2019 and I was a guest editor in-charge for this issue (https://onlinelibrary.wiley.com/toc/15524876/2019/181/2). This work is unique as it is a situated analysis on real life data in Hong Kong (cardiac genetic clinic) and our findings suggested that genetic counsellors should not attribute certain interactional features just to culture and be attentive to other important contextual factors at play.  This inter-disciplinary work (Medicine and Linguistics) is one of the flagship projects of the newly established Research and Impact Initiative on Communication in Healthcare in HKU (https://www.hkuriich.org/the-riich-team).


  10. Yeung KS, Lee TL, Mok MY, Mak CCY, Yang W, Chong PCY, Lee PPW, Ho MHK, Choufani S, Lau CS, Lau YL, Weksberg R, Chung BHY.  Cell Lineage-specific Genome-wide DNA Methylation Analysis of Patients with Paediatric-onset Systemic Lupus Erythematosus. Epigenetics 2019 Apr;14(4):341-351. (IF 4.918)


    The study investigated the genome-wide DNA methylation changes in different immune cell lineages of patients with paediatric-onset SLE. This study showed that there is a disease-specific DNA methylation signature, which is a robust signature that can be found in different immune cell lineages and hence has a potential to be one of the diagnostic biomarkers for SLE. In addition, this study also showed the importance of studying DNA methylation changes in different immune cell lineages, since cell type-specific DNA methylation changes facilitated the elucidation of the cell type-specific molecular pathophysiology of SLE.



Full publication list


Link to Google scholar


Link to Scopus scholar


Link to ResearchGate




Editorship or editorial board membership of scholarly journals

  2012 - 2016 Secretary, Editorial Board, Hong Kong Journal of Paediatrics
  2017 - now Associate Editor, Editorial Board, Hong Kong Journal of Paediatrics (HKJP)
  2015 - 2017 MeMember, Editorial Board, American Journal of Medical Genetics (Part A)
  2018 - now Associate Editor, Editorial Board, American Journal of Medical Genetics (Part A)
  2019 – now Member, editorial board, npj Genomic Medicine
  2019 – now Associate Editor, Genetic Epidemiology Section, BMC Medical Genetics
  2019 Guest editor, American Journal of Medical Genetics (Part C) Seminar series – June 2019 issue on Clinical Genetics in Asia

Impact factor: 5.683
ISI Journal Citation Reports © Ranking: 2018: 20/174 (Genetics & Heredity)





Dr Chung serves as the Education Committee Chairman of the Department since 2017 (co-chairman: Dr Pamela Lee).

He also serves as the Secretary of the Subspecialty Board of Genetics & Genomics of the Hong Kong College of Paediatricians.


Teaching philosophy


I believe great teachers provide the environment and insights for the students to learn proactively and independently. I believe that clinical educators shall go beyond content knowledge and foster critical thinking and problem-solving skills (clinical reasoning). It is also particularly important to be clear about the relevance of the learning process to clinical practice. I take every opportunity to make use of real-life scenarios e.g. use of real patients or personal experience to enhance the student learning process. I strongly believe that learning should be patient-centered, as we are training future doctors to manage patients not only professionally but also humanely.

1) The learning process begins by identifying the gaps in the student's mindset, knowledge, and skills such that the student recognizes areas for development. Through effective feedback and techniques of self-reflection, our future doctors are equipped for their journey of self-long learning.

2) The learner must understand the relevance of the information in the clinical care of the patients. The use of real-life experiences in clinical practice is a powerful tool to engrave the relevance of the knowledge to their future practice as a doctor.

3) The ultimate aim of learning is not to be a good student but a good doctor, someone that can be entrusted with the important responsibilities of the health of Hong Kong citizens.

As a student (1995-1999) and teacher (2000-present) growing up in HKU, I embrace HKU’s vision to provide a “total learning experience”. The key institutional educational aims (https://tl.hku.hk/tl/) matches a lot of my core values in teaching: critical intellectual inquiry, life-long learning, critical self-reflection, collaboration, global citizenship and advocacy for the improvement of human conditions. In recognition of my contribution to teaching and curriculum development, I was awarded the Faculty Teaching Award in 2018-2019.


Teaching in Clinical Genetics


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Clinical Service


Clinical Genetics 臨床遺傳科




Significant Achievement of Team Members


   "Every tree is known by its own fruit"



  • Award for Oral Presentation - 2nd Prize, 2018, Joint Annual Research & Scientific Meeting, Mr Mullin Yu
  • Young Investigator Award , 2017, Asia Society of Pediatric Research, Dr Winnie Tso
  • Young Investigator Award , 2017, Asia Society of Pediatric Research, Mr Steven Pei
  • Award for Oral Presentation - 1st Prize, 2017, Joint Annual Research & Scientific Meeting, Mr Christopher Mak
  • Best Fellow Dissertation Award, 2016, HK College of Paediatricians, Dr Victoria Tao
  • Outstanding Oral Presentation, 2016, 4th ASM - HK College of Paediatricians, Mr Gary Mok
  • Outstanding Oral Presentation, 2016, 4th ASM - HK College of Paediatricians, Ms Mandy Tsang
  • Outstanding Oral Presentation, 2015, 3rd ASM - HK College of Paediatricians, Dr Annisa Mak
  • First Runner-up, 2014, Golden Jubilee Scientific Meeting, Department of Paediatrics & Adolescent Medicine, HKU, Mr Gordon Leung
  • Outstanding Oral Presentation, 2014, 2nd ASM - HK College of Paediatricians, Mr Kit-San Yeung
  • Outstanding Oral Presentation, 2014, 2nd ASM - HK College of Paediatricians, Mr Christopher Mak
  • Outstanding Oral Presentation, 2014, 2nd ASM - HK College of Paediatricians, Mr Gordon Leung



Dr. Winnie Tso, Assistant Professor (left), and
Dr. Steven Pei, Post-doctoral Fellow (right)
were both awarded the Young Investigator Award in The 13th Congress of Asian Society for Paediatric Research (ASPR) in 2017 under my supervision.