Publications:

Most significant Publications

1. Grafodatskaya D*, Chung BH*, 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;6:1-18 [*equal contributions]
   We have for the first time identified epigenetic alterations in patient samples carrying a mutation in a gene involved in the regulation of histone modification, implicated in a form of X-linked intellectual disability and autism spectrum disorder (KDM5C or JARID1c). These data support the concept that DNA methylation and H3 lysine4 methylation are functionally interdependent. The data provide new insights into the molecular pathogenesis of intellectual disability and our data also suggest that some DNA methylation marks identified in blood can serve as biomarkers of epigenetic status in the brain. This work has been awarded the Best Basic Research in the Annual Research Day, Paediatrics, Hospital for Sick Children, Toronto (2010).
2. 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; 20:398-403.
   This paper was published in a journal within quartile 1 of the category GENETICS & HEREDITY. This is the first publication that describes the pathologic effect of duplications of the genomic region 2q23.1, including the gene MBD5, in neurodevelopmental phenotypes and autism. This publication summarizes the result of the research work done during my overseas training which is now an important area of my research. The results are the product of successful collaborations with colleagues in several centres in Canada and the US that allowed us to perform a detailed clinical and molecular characterization of three patients with this novel disorder.
3. 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.
   This paper was published in the top journal of the category PEDIATRICS. It reviewed the most up-to-date evidence about the relationship of epigenetics and neurodevelopment in particular autism spectrum disorder. It received editorial comments from the Journal of the American Academy of Child & Adolescent Psychiatry in the same issue. To accelerate the understanding of the role of epigenetics in autism etiology is identified as an emerging gap area for autism research by the 2011 Interagency Autism Coordinating Committee Strategic Plan for Autism Spectrum Disorder Research (http://iacc.hhs.gov/strategic- plan/2011/caused_prevented.shtml).
4. 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;47:195-203.
   This paper was published in a journal within quartile 1 of the category GENETICS & HEREDITY. Chromosome 16p11.2 deletion/duplication is probably THE most recognized copy number variations associated with susceptibility to Autism Spectrum Disorder. This is one of the early publications regarding patients with chromosome 16p11.2 changes with very detailed phenotypic descriptions, providing important information for the translation of important research findings into clinical patient care.
5. 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.
6. 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;466:368-372.
   The Autism Genome Project (AGP) is a large-scale, international collaborative genetic research project that aims to identify autism susceptibility genes. This is its landmark study on Copy Number Variations, involving 996 ASD cases and 1287 controls, has demonstrated a higher burden of rare, genic CNVs in patients compared to controls and notably higher involvement of genes previously implicated in intellectual disability. It has been elected as one of the most impactful studies in the field of autism research by the Interagency Autism Coordinating Committee (IACC) (http://iacc.hhs.gov/) of the US Department of Health and Human Services in 2010.

Publications in International Peer-reviewed Journals (in Index Medicus & Pubmed)

7. Chan KW, Lee TL, Chung BHY, Yang X and Lau YL Identification of 5 novel WASP mutations in Chinese Families with Wiskott-Aldrich Syndrome. Human Mutation 2002;20(2):151-152.
8. Chung BHY, Ha SY, Chan GCF and Lau YL. Klebsiella infection in patients with Thalassaemia. Clinical Infectious Diseases 2003;36: 575- 579.
9. Chung BHY, Wong VCN and Ip. P. Prevalence of Neuromuscular Disease in Chinese Children: A Study in Southern China, Journal of Child Neurology 2003;18(3): 217-219.
10. Wong VCN and Chung BHY. Survey of Public Awareness, Attitudes, and Understanding toward Epilepsy in Hong Kong, Epilepsia 2003;44(2): 268 -269.
11. Khong PL, Lam BCC, Chung BHY, Wong K.Y and Ooi GC. Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia. American Journal of Neuroradiology 2003;24(6):1181-1183.
12. Lee WC, Leung JLS, Fung CW, Chung BHY, and Wong V. Spectrum of Antiepileptic Drugs Hypersensitivity Syndrome: Controversy of treatment. Journal of Child Neurology 2004;19(8):619-623.
13. Chung BHY and Lau YL. Reply to Lee: Severe bacterial infection in transfusion-dependent patients with thalassaemia major. Clinical Infectious Diseases 2004;38(8):1195.
14. Wong V, Chung BHY Hui S, Fong A, Lau C, Law B, Lo K, Shum T and Wong R. Cerebral Palsy - Correlation of Risk factors and Functional performance using Functional Independence Measure for Children (WeeFIM). Journal of Child Neurology 2004;19(11):887-893.
15. Chung BHY and Wong V. Pediatric Stroke Among Hong Kong Chinese Subjects. Pediatrics 2004;114(2):e206-212.
16. Ip P, Chung BHY, Wong VCN and Chan KY. Subacute Sclerosing Panencephalitis in Children: Prevalence in South China. Pediatric Neurology 2004;31(1):46-51.
17. Chung BHY, Ip P, Wong VCN, Lo JYC and Harding B. Acute Fulminant SSPE with absent Measles and PCR studies in Cerebrospinal Fluid. Pediatric Neurology 2004;31(3): 222-224.
18. Khong PL, Zhou LJ, Ooi GC, Chung BHY, Cheung RTF and Wong VCN. The evaluation of Wallerian degeneration in chronic paediatric middle cerebral artery infarction using diffusion tensor MR imaging. Cerebrovascular Diseases 2004;18(3): 240-247.
19. Wong V, Hui S, Lee WC, Leung LSJ, Ho PKP, Lau WLC, Fung CW and Chung BHY. A Modified Screening Tool for Autism - Checklist for Autism in Toddlers (CHAT-23) for Chinese Children. Pediatrics 2004;114(2): e166-176 .
20. Chung BHY, Wong V and Ip P. Spinal Muscular Atrophy: Survival Pattern and Functional Status. Pediatrics 2004;114(5):548-553.
21. Wong V, Chung BHY and Wong R. Pilot Survey of public awareness, attitudes and understanding towards epilepsy in Hong Kong. Neurology Asia 2004;9:21-27.
22. Chung BHY, Wat LCY, Wong V. Febrile Seizure in Southern Chinese children: Incidence and Recurrence. Pediatric Neurology 2006;34 (2):121-126.
23. Wong VCN, Chung BHY, Li S, Goh W and Lee SL. Mutation of Gene in Spinal Muscular Atrophy Respiratory Distress Type I. Pediatric Neurology 2006;34(6):474-477.
24. Wong VCN, Chung BHY. Evaluating a Child with Partial Developmental Delay (ParDD), Global Developmental Delay (GDD)/Mental Retardation (MR): Clinical Expertise Based or Evidence-Based? Current Pediatric Reviews 2006;2 (2):143-153.
25. Chung BHY and Wong VCN. Relationship between 5 Common Viruses and Febrile Seizure in Children. Archives of Disease in Childhood 2007;92:589-593.
26. Chung BHY, Tsang A.M.C. and Wong V.C.N. [Letter to the Editors] Neurologic complications in children hospitalized with influenza: comparison between USA and Hong Kong. The Journal of Pediatrics 2007;151(5): e17-e18.
27. Chung BHY, Ma ESK, Khong PL and Chan GCF. Inherited thrombophilic factors do not increase central venous catheter blockage in children with malignancy. Pediatric Blood & Cancer 2008;51:509-512.
28. Chung BHY, Lam ST, Tong TM, Lun KS, Chan DH, Fok SF, Or JS, Smith DK, Yang W and Lau YL. Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. American Journal of Medical Genetics 2009;149 A(7):1452-9.
29. Chung BHY, Chu L, Forrest C, Silver R, Toi A, Blaser S, Viero S, Taylor G and Chitayat D. Fetal Forehead Hemangiopericytoma. Prenatal Diagnosis and Postnatal Outcome. Ultrasound in Obstetrics and Gynecology 2010;36 (1):121-124.
30. Chung BHY, Uster-Friedberg T, Pentaz S, Blaser S, Murphy K and Chitayat D. Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imaging. Ultrasound in Obstetrics and Gynecology 2010;36 (1):521-522.
31. Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BHY, Langlois S, Yong SL, Lowry RB, Hildebrandt F and Trnka P. Co-occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy. American Journal of Medical Genetics (Part A) 2010;152A:1411-1419.
32. Wong VCN and Chung BHY. Value of clinical assessment in the diagnostic evaluation of Global Developmental Delay (GDD) using a Likelihood Ratio Model. Brain & Development 2011;33:548-557.
33. Chung BHY, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW and Yoon G. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. American Journal of Medical Genetics (Part A) 2011;155:424-429.
34. Chung BHY, Shaffer LG, Keating S, Johnson J, Casey B and Chitayat D. From VACTEL-H to Heterotaxy: Variable Expressivity of ZIC3 - Related Disorders. American Journal of Medical Genetics (Part A) 2011;155(5):1123-1128.
35. Chung BHY, Irene Drmic, Christian R Marshall, Daria Grafodatskaya, Melissa Carter, Bridget A Fernandez, Rosanna Weksberg, Wendy Roberts and Stephen W Scherer. Phenotypic spectrum associated with duplication of Xp11.22- p11.23 includes Autism Spectrum Disorder. European Journal of Medical Genetics 2011;54:e516-e520.
36. Chung BHY, Fernandez B, Li C, Chitayat D. Letter to the Editor: Correspondence: further studies on a kindred reported by Li 20098 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome. Clinical Dysmorphology 2012;21:109- 111.
37. Ho ACC, Liu APY, Lun KS, Tang WF, Chan KYK, Lau EYT, Tang MHY, Tan TY, Chung BHY. A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - Is cardiac assessment necessary for all patients with 17p13.3 microduplication? European Journal of Medical Genetics 2012;55:758-762.
38. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung BHY, Toutain A, Weksberg R, Millen KJ, Barkovich AJ and Dobyns WB. Cerebellar and posterior fossa malformations in pateients with autism-associated chromosome 22q13 terminal deletion. American Journal of Medical Genetics (Part A) 2012;161A:131-136.
39. Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AKT and Chung BH. ANGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. British Medical Journal Case Reports. 22 Jan 2013
40. Yang W, Tang H, Zhang Y, Tang X, Zhang J and Chung BHY et al. Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. The American Journal of Human Genetics 2013; 92:41-51.
41. Chung BHY, Luk HM, Lo IFM, Lam STS, Li RHW. A second report of p.Pro986Leu variant in COL2A1 - phenotypic with SEDC and other forms of type II collagenopathies. American Journal of Medical Genetics (Part A) 2013;161A:918-920.
42. Shek N, ..., Chung BHY et al. Prenatal Diagnosis of Agenesis of the Corpus Callosum and Cerebellar Vermian Hypoplasia Associated with a Microdeletion on Chromosome 1p32. Case Report in Perinatal Medicine ; 201;2:39-45.
43. Chung BHY, Tao VQ, Tso WWY. Copy number variation and autism: New insights and clinical implications. Journal of the Formosan Medical Association 2013 [in-press]
44. Tsang JS, Tong DKH, Chung BHY, Tang MHY, Lau ET, Chan GCF and Law SYK. Alport's syndrome: case of a giant esophageal tumor. Esophagus 2013;10:114-117.
45. Chan TK, Hui E, Chung BHY. A child born with Edward's syndrome: the legal and moral duty to accede to the request for parentage determination. Journal of Medical Ethics 2012[in press].
46. Chung BHY Bradley T, Grosse-Wortmann L, Blaser S, Dirks P, Hinek A, Chitayat D. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz Syndrome - Expanding the Clinical Spectrum. American Journal of Medical Genetics (Part A) American Journal of Medical Genetics (Part A) 2012 (in-press)
47. Liu APY, Tang WF, Lau ETK, Chan YK, Kan SYA, Wong KY, Tso WYW, Jalal K, Lee SL, Chau CSK and Chung BHY. Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature, American Journal of Medical Genetics, Part A. 2013, 161A: 1309-1318.
48. Zhang J, Zhang Y, Zhang L, Yang J, Ying D, Zeng S, Lee TL, Lau WCS, Chan DTM, Leung AMH, Mok CC, Wong SN, Lee KW, Ho MHK, Lee PPW, Chung BHY, Chong CY, Wong RWS, Mok TMY, Wong WHS, Lau YL, Yang W. Epistatic Interaction between Genetic Variants in Susceptibility Gene ETS1 Correlates with IL- 17 Levels in SLE Patients, Annals of Human Genetics, 2013, 77(4): 344-350.
49. Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AKT and Chung BHY. NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. British Medical Journal [Case reports] 2013 (in-press) (doi:10.1136/bcr-2012-007529)
50. Zayts O, Sarangi S, Thong MK, Chung BHY, Genetic counseling/consultation in South-East Asia: A report from the workshop at the 10th Asia Pacific Conference on Human Genetics, Journal of Genetic Counseling [in press] (doi:10.107/x10897-013-9646-7)

Articles in Regional Journal

51. Chung BHY, Wong KY, Lee JSK, Lam BCC. Non-ketotic Hyperglycinaemia: A Case Report and Review on Treatment. Hong Kong Journal of Paediatrics (new series) 2002,7:152-156.
52. Chung BHY, Chan GCF, Lee TL, Kwok JSY, Chiang AKS, Ho HK, Ha SY, Lau YL. Chronic Benign Neutropenia of Infancy and Childhood in Chinese Children. Hong Kong Medical Journal 2004;10(4):231-236.
53. Chau AKT, Chung BHY, Lun KS, Cheung YF, Yung TC. Midterm outcomes of transcatheter closure of atrial septal defect using the amplatzer septal occulder in children. Hong Kong Journal of Paediatrics 2005;10: 251-256.
54. Chung BHY, Lee TL, Chan CF, Chiang A, Chan KW, Ha SY, Lau YL. Haematopoietic stem cell transplant for Wiskott-Aldrich syndrome. Hong Kong Journal of Paediatrics (new series) 2006;11:186-190.
55. Liu APY, Ng YK, Hui PW, Lau ETK., Tang MHY, Chung BHY. Achondroplasia -Clinical Quiz - What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2011;16:188.
56. Chung BHY, Ip P, Chow CB, Chin R, Lau YL and Koren G. Teratology and Developmental Pharmacology: Why should Paediatricans Care? Hong Kong Journal of Paediatrics (new series) 2011;16:264-272.
57. Liu APY, So JCC, Lam CCK, Ha SY, Chan GCF, Chung BHY. Osteopetrosis -What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2011;16:292.
58. Liu APY, Oakhill K, Chan GCF and Chung BHY. Tuberous sclerosis -What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2012;17:67.
59. Liu APY, Chung BHY and Yung TC. Long QT syndrome - What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2012;17:130.
60. Leung WY, Liu APY and Chung BHY. Amyoplasia congenital - What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2012;1 (3)7:190.
61. Ho ACC, Chan SY, Chow PC, Wong KT, Lun KS, Lo IFM, Lam STS, Chau KT, Lau YL, Chung BHY. Two Chinese Patients with Loeys-Dietz Syndrome: A Connective Tissue Disorder with Marfan-like Features and Vasculopathy. Journal of Paediatrics (new series) 2012;17:248-253.
62. Leung WY, Ip JKJ, Chung BHY. Vein of Galen Malformation - What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2012;17:258- 259.
63. Leung WY, Liu APY, Chung BHY. Osteogenesis imperfect - What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2013;18:182.

*****Since 2011, I have been submitting interesting cases I have seen in my clinical genetics practice for clinical quizzes in the Hong Kong Journal of Paediatrics, on a voluntary basis. I believe that clinical quiz is a very convenient way of education to remind the busy paediatricians on important genetic conditions that they may see in their practice e.g. Achondroplasia in newborn, tuberous sclerosis, and long QT syndrome. So far 7 cases have been published and one more on osteogenesis imperfect has just been published.