PERSONAL DETAILS


Prof. Dr. Thong Meow Keong

Professor
Department of Paediatrics
Faculty of Medicine
 
  +603-79492065
  +603-79494704
  thongmk@um.edu.my
  Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
 
ResearcherID Link
  http://www.researcherid.com/rid/B-9960-2010


BIBLIOMETRIC DATA


 Total Articles in Publication List  50
 Articles With Citation Data  34
 Sum of the Times Cited   413
 Average Citations per Article   12.15
 h-index   11
 Co-authors   Collaboration Network
 This information is generated from http://researcherid.com

BIOGRAPHY


Professor Dr THONG Meow Keong studied medicine and trained in Paediatrics at the University of Malaya. He received genetic training at the Singapore General Hospital and established the first Genetics Clinic at the University Hospital Kuala Lumpur when he joined the Department of Paediatrics, University Malaya in 1995. He was a Fellow in Clinical Genetics at the Women’s and Children’s Hospital, Adelaide and as a Senior Fellow at the renowned Murdoch Childrens Research Institute in Melbourne, Australia. He returned to Malaysia in 2000 as the first board-certified clinical geneticist in Malaysia. He was promoted to Associate Professor in 2000 and headed the Genetics & Metabolism Unit at the Department of Paediatrics. He received a Doctorate in Medicine (M. D.) from University of Malaya in 2004, based on his research on the molecular genetics of beta thalassaemia and discovering the molecular basis of beta thalassaemia in the Kadazandusuns in Sabah.  He was made a Professor in 2006. He has published over 60 peer-reviewed publications on genetic disorders that hitherto have not been well documented in the various Asian subpopulations; authored 3 books, including Handbook of Hospital Paediatrics (2nd edition), Problem-based Learning in Medical Sciences and Rare Journeys of Love and 10 book chapters, including a chapter in the prestigious Oxford monograph Genomics and Health in the Developing World and presented in many national and international conferences, including 120 proceedings. He worked closely with the Ministry of Health Malaysia in developing the counselling module for thalassaemia and other clinical practice guidelines and collaborated with the World Health Organization and March of Dimes on birth defects and haemoglobinopathies. He was a Fulbright scholar at the Center for Diseases Control and Prevention (CDC) in Atlanta, USA and a past recipient of the 8th Royal College of Physicians of London and Academy of Medicine of Malaysia Annual Research Award, Australia-Malaysia Fellowship in Research Excellence, the Travel Award by the Asian Society for Pediatric Research, Japan, University of Malaya Distinguished Service awards and several gold medals in ITEX and Biotechnology Asia invention and innovation competitions. He is also a reviewer for international journal manuscripts, research grant applications as well as an examiner for national and international medical examinations and supervised postgraduates. He is the current President of the Asia-Pacific Society of Human Genetics since 2012, founding Vice President of the Medical Genetics Society of Malaysia since its inception, Chairman of the Clinical Genetics sub-speciality committee of the National Specialist Register Malaysia  and President of the College of Paediatrics, Academy of Medicine of Malaysia. He was the Head, Department of Paediatrics, University of Malaya from 2009 – 2011 with the notable achievement of overseeing the successful transition of the Department of Paediatrics to the new Women’s and Children’s Health Complex of UMMC. He organized the 10th Asia-Pacific Conference on Human Genetics and is the founding National Advisor to the Malaysian Rare Disorders Society since 2004. His current interests include delineation of rare disorders, preventive and curative strategies for genetic disorders, genetic counselling, inborn errors of metabolism and access to genetics and genomics services in developing countries.


ACADEMIC QUALIFICATION
(Qualification), (Institution).



PROFESSIONAL
(Organisation), (Role), (Year), (Level).


  • ASIA-PACIFIC SOCIETY OF HUMAN GENETICS, President, 2012, (International)
  • College of Paediatrics, Academy of Medicine of Malaysia, Chairman, 2012, (National)
  • Medical Genetics Society of Malaysia, Vice President, 2012, (National)
  • MALAYSIAN RARE DISORDERS SOCIETY, Advisor, 2005, (National)
  • Human Genetics Society of Australasia, Member, 1999, (International)
  • AMERICAN SOCIETY OF HUMAN GENETICS, Member, 1996, (International)

ADMINISTRATIVE DUTIES
(Role), (Level), (Start date),(End Date).


  • Ahli Panel Penilai Geran Peruntukan Penyelidikan Pascasiswazah (PPP) Fakulti Perubatan Universiti Malaya, Pediatrik, Department Of Paediatrics, Faculty Of Medicine, 01-Oct-15 - 30-Sep-18
  • Ahli Jawatankuasa Penilaian Bagi Permohonan Geran Penyelidikan Di Bawah Tadbir Urus Institut Pengurusan & Pemantauan Penyelidikan (IPPP) Peringkat Universiti Malaya, University Malaya, 01-Jan-15 - 30-Dec-16
  • Ahli Jawatankuasa "National Credentialling Committee" untuk kepakaran Pediatrik dan subkepakaran 'Clinical Genetics', National, 04-Jan-14 - 03-Jan-16
  • Chairman, Postgraduate Clinical Curriculum Review, Faculty of Medicine, Faculty Of Medicine, 10-Sep-14 - 31-Dec-15
  • Member of the Medical Advisory Committee, University of Malaya Medical Centre, Department Of Paediatrics, Faculty Of Medicine, 01-Nov-11 - 31-Dec-15
  • Ahli Jawatankuasa Credentialing and Previleging Pusat Perubatan Universiti Malaya, University Malaya, 01-Jan-14 - 31-Dec-15
  • Kordinator Keseluruhan Klinikal Peperiksaan MBBS Ketiga 2013/2014, Faculty Of Medicine, 01-Jan-14 - 31-Dec-14
  • Panel member, Health and Translational Medicine Research Cluster, University Malaya, 01-Jan-13 - 31-Dec-14
  • Ahli Jawatankuasa Penilaian Skim Geran Penyelidikan Fundamental (FRGS) Universiti Malaya, University Malaya, 18-Apr-14 - 31-Dec-14
  • Chairman, Postgraduate Affairs, Department of Paediatrics, Department Of Paediatrics, Faculty Of Medicine, 01-Apr-13 - 31-Dec-14
  • Member Problem-based Learning committee, Pediatrik, Department Of Paediatrics, Faculty Of Medicine, 05-Nov-02 - 31-Dec-13
  • Head Of Department, Pediatrik, Department Of Paediatrics, Faculty Of Medicine, 01-Jul-11 - 08-Jul-11
  • Head Of Department, Pediatrik, Department Of Paediatrics, Faculty Of Medicine, 01-Sep-09 - 30-Jun-11

AREAS OF EXPERTISE
(Area).


  • Clinical Genetics (Genetic counselling and Inborn Errors of Metabolism)
  • Medical Education (Problem-based Learning)
  • Paediatrics (Birth Defects and Dysmorphology)


RECENT SELECTED PUBLICATIONS
(Publication).



Book
2012
  • Thong MK, Lian LH, Tan CPL, Sim DSM, Jamuna V, Kanthimathi MS. 2012. Problem-Based Learning in Medical Sciences. University of Malaya Press. ISBN: 978-983-100-548-4. 

2011
  • Chin, N.F., Thong, Meow-Keong. 2011. Rare Journeys of Love. Persatuan Penyakit Jarang Jumpa Malaysia. 148 pages 

2009
  • Thong MK, Wong CP, Lee WS. 2008. Handbook of Hospital Paediatrics Second Edition ISBN 978-983-3909-43-8. 656 pages. Kuala Lumpur: UniPress Publishing 

2006
  • Thong MK. Co-author, Management of Birth Defects and Haemoglobin Disorders: report of a Joint World Health Organization (WHO) and March of Dimes Meeting, Geneva, Switzerland 2006. ISBN: 924-15949-2-6. 

2005
  • Lee WS, Thong Meow Keong, Wong CP "Handbook of Hospital Paediatrics. ISBN 983-41983-5-3. 289 pages. 2005, UniPress Publishing, pg. 289 

2003
  • Thong MK. (Ed) 2003. From peas to chips: the globalisation of genetics. Proceedings of the Fifth National Genetics Congress. ISBN 983-99037-6-4. Genetics Society of Malaysia 168 pages. 
  • Thong MK Co-author, Expert Committee of the Health Technology Assessment Report on Management of Thalassaemia, Ministry of Health Malaysia MOH/P/PAK/77.03(TR) 2003. 

Chapter In Book
2012
  • Thong MK. Clinical Dysmorphology and Birth Defects Registry in the Asia-Pacific Region. In: Kumar D (editor). Oxford Monographs in Medical Genetics: Genomics and Health in the Developing World. New York, Oxford University Press, Inc. 2012: 782-791. ISBN: 978- 0-19-537475-9. 
  • Thong MK, Lian LH. Problem-Based Learning in the Clinical Years. In: Thong MK et al. Problem-Based Learning in Medical Sciences. University of Malaya Press. 2012: 29- 34. ISBN: 978-983-100-548-4. 
  • Kanthimathi MS, Thong MK, Lian LH. Development and Design of Case Scenarios. In: Thong MK et al. Problem-Based Learning in Medical Sciences. University of Malaya Press. 2012: 35-88. ISBN: 978-983-100-548-4. 

2011
  • Thong, M.K. What are Rare Disorders. 2011 In Chin, N.F., Thong, Meow-Keong (eds). Rare Journeys of Love. Persatuan Penyakit Jarang Jumpa Malaysia. 148 pages 

2010
  • Thong Meow-Keong. 2010. Birth Defects, Genetics and the Last Best Hope on Earth. In: Suseela Malakolunthu, Asma Abdullah (eds). Fulbright Chronicles: American Experience, Malaysian Perspective 174 pages.University of Malaya Press 

2009
  • Thong MK. 2009. Cardiorespiratory arrest. In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009. 
  • Thong MK. Poisoning in Children In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009 Second Edition. ISBN 978-983-3909-43-8, 656 pages, UniPress 
  • Thong MK. Clinical Genetics & Genetic Counselling. In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009 Second Edition. ISBN 978-983- 3909-43-8, 656 pages, UniPress 
  • Thong MK. Birth Defects & Skeletal Dysplasias. In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009 Second Edition. ISBN 978-983- 3909-43-8, 656 pages, UniPress 
  • Thong MK. Genetic Testing and Metabolic Evaluation. In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009 Second Edition. ISBN 978-983- 3909-43-8, 656 pages, UniPress 

Article In Academic Journals
2015
  • Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Lin HY, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). Mol Genet Metab. 2015 Mar 26. pii: S1096-7192(15)00085-2. doi: 10.1016/j.ymgme.2015.03.005 (ISI/SCOPUS Cited Publication)
  • Kang PC, Phuah SY, Sivanandan K, Kang IN, Thirthagiri E, Liu JJ, Hassan N, Yoon SY, Thong MK, Hui M, Hartman M, Yip CH, Taib NA, Teo SH.2015.Erratum to: Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.Breast Cancer Res Treat.150(3):699- 700. (ISI-Cited Publication)
  • Yang W., Lee.P.P.W., Thong M.K., Ramanujam T.M., Shanmugam A. Koh M.T., et.al. 2015. Compound Heterozygous Mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunedeficiency. Clinical Genetics 2015 (doi:10.111/cge.12553) 1: 1- 8. (ISI/SCOPUS Cited Publication)
  • Jawin V, Ang HL, Omar A, Thong MK. Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country. PLoS One 2015 Sep 11;10(9):e0137580. doi: 0.1371/journal.pone.0137580 (ISI/SCOPUS Cited Publication)

2014
  • Yang W, Lee PP, Thong M, Ramanujam TM, Shanmugam A, Koh M, Chan K, Ying D, Wang Y, Shen JJ, Yang J, Lau YL. Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresia and severe combined immunodeficiency. Clin Genet. 2014 Dec 23. doi: 10.1111/cge.12553 (ISI/SCOPUS Cited Publication)
  • Thong M.K. Birth defects registries in the genomics era: challenges and opportunities for developing countries. Front Pediatr. 2014;2:60. doi: 10.3389/fped.2014.00060. eCollection 2014. (Non-ISI/Non-SCOPUS Cited Publication)

2013
  • Juliana Mei-Har Lee and Meow-Keong Thong. Genetic Counseling Services and Development of Training Programs in Malaysia. (2013) Journal of Genetic Counselling 2013 DOI:10.1007/s10897-013-9589-z (ISI/SCOPUS Cited Publication)
  • Boo NY, Cheah IG, Thong MK; for Malaysian National Neonatal Registry.(2013)Neural Tube Defects in Malaysia: Data from the Malaysian National Neonatal Registry. J Trop Pediatr. 2013 Oct;59(5):338-342. doi:10.1093/tropej/fmt026 (ISI/SCOPUS Cited Publication)
  • Prevalence of PALB2 mutations in breast cancer patients in multi- ‐ethnic Asian population in Malaysia and Singapore. Phuah SY, Lee SY, Kang P, Kang IN, Yoon SY, Thong MK, Hartman M, Sng JH,YipCH,Mohd Taib NA, TeoSH. Plos One2013 (ISI-Cited Publication)

2012
  • Meow-Keong Thong. A tribute to Keiko Kobayashi and her work on citrin deficiency. Mol Genet Metab. 2012 Apr;105(4):551-2. Epub 2012 Jan 10. doi:10.1016/j.ymgme.2012.01.003 PMID: 22284267 (ISI-Cited Publication)
  • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH. Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients. Breast Cancer Res. 2012 Apr 16;14(2):R61. (ISI/SCOPUS Cited Publication)
  • Khositseth S, Bruce LJ, Walsh SB, Bawazir WM, Ogle GD, Unwin RJ, Thong MK, Sinha R, Choo KE, Chartapisak W, Kingwatanakul P, Sumboonnanonda A, Vasuvattakul S, Yenchitsomanus P, Wrong O. Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients. QJM. 2012 Sep;105(9):861-77. (ISI/SCOPUS Cited Publication)
  • Wuh-Liang Hwu, Torayuki Okuyama, Wai Man But, Sylvia Estrada, Xuefan Gu, Joannie Hui, Motomichi Kosuga, Shuan-Pei Lin, Lock-Hock Ngu, Huiping Shi, Akemi Tanaka, Meow-Keong Thong, Pornswan Wasant, Duangrurdee Wattanasirichaigoon and Jim McGill. Current diagnosis and management of mucopolysaccharidosis VI in the Asia- Pacific region. Mol Genet Metab 2012. Sep;107(1-2):136- 44. doi: 10.1016/j.ymgme.2012.07.019. Epub 2012 Jul 20 (ISI/SCOPUS Cited Publication)

2011
  • The frequency of common mitochondrial DNA mutations in a cohort of Malaysian patients with specific mitochondrial encephalomyopathy syndromes Jia-Woei Chong, Azlina Ahmad Annuar, Kum-Thong Wong, Meow-Keong Thong, Khean-Jin Goh Neurology Asia 2011; 16(4) : 321 327 (ISI-Cited Publication)
  • Si-Mui Sim, Lay-Hoong Lian,Kanthimathi, Meow-Keong Thong, Nget-Hong Tan. Students f Perception and Acceptance of Problem-based Learning (PBL) in a Hybrid Traditional-PBL Curriculum. J Med Education 2011; 15: 333 `343 (SCOPUS-Cited Publication)
  • Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Yoon SY, Thong MK, Taib NA, Yip CH, Teo SH. Fam Cancer. (2011) Feb 12. (ISI-Cited Publication)
  • Sook-Yee Yoon, Meow-Keong Thong, Nur Aishah Mohd Taib, Cheng-Har Yip and Soo-Hwang Teo, 2011. Genetic Counseling For Patients and Families with Hereditary Breast and Ovarian Cancer in a Developing Asian Country: An Observational Descriptive Study. Familial Cancer 2011 DOI 10.1007/s10689-011-9420-7 (ISI-Cited Publication)

2010
  • Chen BC, McGown IN, Thong MK, Pitt J, Yunus ZM, Khoo TB, Ngu LH, Duley JA. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations. J Inherit Metab Dis. 2010 Feb 23. [Epub ahead of print] (ISI/SCOPUS Cited Publication)
  • Thong MK, Boey CCM, Sheng JS, Ushikai M, Kobayashi K. Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian Chinese siblings: outcome at one year of life. Singapore Medical Journal 2010; 51 (1): e12 (SCOPUS-Cited Publication)
  • Ahmad Annuar A, Wong KT, Ching AS, Thong MK, Wong SW, Alsiddiq F, Ong LC, Goh KJ. Exercise induced cramps and myoglobinuria in dystrophinopathy - a report of three Malaysian cases. Neurology Asia 2010;15(2):125- 131 (ISI-Cited Publication)

2009
  • Thong MK, Fietz M, Nicholls C, Lee MH, Asma O.Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation.J Inherit Metab Dis. 2009 Jan 26.DOI 10.1007/s10545-009-1031-1 (ISI/SCOPUS Cited Publication)
  • Fong CB, Thong MK, Sam CK, Mohamed Noor MN, Ariffin R.2009. MECP2 Mutations in Malaysian Rett Syndrome Patients. Singapore Medical Journal 50(5):529-33. (SCOPUS-Cited Publication)

2008
  • Thirthagiri E, Lee SY, Kang P, Lee D, Toh GT, Selamat S, Yoon S-Y, NA Mohd Taib, Thong MK, Yip CH and Teo SH Evaluation of BRCA1 and BRCA2 risk prediction models in a typical Asian country (Malaysia) with relatively low incidence of breast cancer. Breast Cancer Research 2008; 10(4):R59. Epub 2008 Jul 16 (ISI/SCOPUS Cited Publication)
  • Thong MK, Zabedah MY. 2008. Spectrum of Inherited Metabolic Disorders in Malaysia. Annals of Academy of Medicine, Singapore 37 (Suppl 3): 66-70 (ISI/SCOPUS Cited Publication)
  • Wong Voon Fui, Thong Meow Keong, Ow Siew Hock. An Overview of Computer-Aided Medical Pedigree Drawing Systems. Chiang Mai University Journal of Natural Sciences 2008; 7 (1): 95-108 (SCOPUS-Cited Publication)

2006
  • Ho JJ, Thong MK, Nurani NK. Prenatal detection of birth defects in a Malaysian population: Estimation of the influence of termination of pregnancy on birth prevalence in a developing country. Australian & New Zealand J of Obstetrics & Gynaecology 2006; 46 (1): 55- 7. (SCOPUS-Cited Publication)
  • Thong MK. Reducing the Impact of Genetic Diseases: Curative and Preventive Aspects. JUMMEC (Journal of the University of Malaya Medical Center) 2006; 1: 78- 80. (SCOPUS-Cited Publication)

2005
  • Meow-Keong Thong, Lee-Gaik Chan, Hui-Sen Ting , "Further delineation of Al-Gazali syndrome in a Malaysian family. ", 2005, Clin. Dysmorphol., Vol. 14, pg. 1-5 (ISI/SCOPUS Cited Publication)
  • Thong MK, JAMA Tan, KL Tan, SF Yap. Characterisation of beta-globin gene mutations in Malaysian children: A Strategy for the control of beta-thalassaemia in a developing country. Journal of Tropical Paediatrics 2005;51(6):328-33 (ISI-Cited Publication)
  • Thong MK, Ho JJ, Noor Khatijah N. A population-based study of birth defects in Malaysia. Annals of Human Biology 2005; 32 (2): 180-187. (ISI-Cited Publication)
  • Thong MK, Soo TL. The spectrum of beta globin gene mutations in children with beta- thalassaemia major from Kota Kinabalu, Sabah, Malaysia. Singapore Medical Journal 2005; 46 (7): 340 343. (SCOPUS-Cited Publication)
  • Thong MK, Bazlin R, Wong KT. Diagnosis and management of Duchenne Muscular Dystrophy in a developing country over a 10-year period. Developmental Medicine and Child Neurology 2005; 47: 474-477. (ISI-Cited Publication)

2003
  • Chan L, Gopinathan R, Thong MK. Mucopolysaccharidosis: airway risk to anaesthetists. Asean Journal of Anaesthesiology 2003; 4 (1): 52-4. (Non-ISI/Non-SCOPUS Cited Publication)
  • Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki MB, Thompson EM, Laing N and Christodoulou J. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype. American Journal of Medical Genetics 2003, 118A; 103-114 (ISI-Cited Publication)

2002
  • Azila NMA, Tan CPL, Sim SM, Tan NH, Atiya AS, Junedah S, George J and Thong MK Problem-Based Learning: Monitoring and Searching for an Appropriate Tune. Journal of Medical Education 2002; 6: 224-229. (ISI-Cited Publication)
  • Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry S, Chen E, Delorme CV, Thong MK, Ad s LC and Milewicz DM. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Human Mutation 2002; 19(1):39-48. (ISI-Cited Publication)

2001
  • Tan KL, Tan JAMA, Wong YC, Wee YC, Thong MK, Yap SF. Combine-ARMS: A rapid and cost-effective protocol for molecular characterization of beta-thalassaemia in Malaysia. Genetic Testing 2001; 5(1): 17 V 22. (ISI-Cited Publication)

2000
  • Meow Keong Thong, G Scherer, K Kozlowski, E Haan, L Morris, Acampomelic campomelic dysplasia with SOX9 mutation. Am J Med Genet A, 2000, Vol. 93, pg. 421-5 (ISI/SCOPUS Cited Publication)

1999
  • MK Thong, Z Rudzki, J Hall, JAMA Tan, LL Chan LL, SF Yap, "A single large deletion accounts for all beta- globin gene mutations in twenty families in Sabah (north Borneo), Malaysia. Human Mutations 1999; 13 (5): 413.", 1999, Hum Mutat, Vol. 13, no. 5, pg. 413 (ISI/SCOPUS Cited Publication)
  • Thong MK, Thompson EM, Keenan R, Simmer K, Harbord M, Davidson G, Haan E. A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia a diagnostic dilemma. Clinical Dysmorphology 1999; 8: 283-6. (ISI/SCOPUS Cited Publication)
  • Thong MK, Rudzki Z, Hall J, Yap SF, Tan KL, Tan JAMA. Screening for undetected beta-globin gene mutations using chemical cleavage of mutation method in patients registered with the Thalassaemia Registry, University Hospital Kuala Lumpur. Asia-Pacific Journal of Molecular Biology and Biotechnology 1999; 7: 39-45. (Non-ISI/Non-SCOPUS Cited Publication)

1998
  • MK Thong, CT Lim, H Fatimah, "Undescended testes: incidence in 1002 consecutive male infants and outcome at one year of age. ", 1998, Pediatr Surg Int, Vol. 13, pg. 37-41 (ISI/SCOPUS Cited Publication)

1997
  • Lim CT, Thong MK, Parasakthi N, Ngeow YF. Group B Streptococcus: Maternal carriage rate and early neonatal septicaemia. Annals Academy of Medicine, Singapore 1997; 26(4): 421-5. (ISI/SCOPUS Cited Publication)
  • MK Thong, AAL Tan, HP Lin. Distal renal tubular acidosis and hereditary elliptocytosis in a single family. Singapore Med J, 1997; Vol. 38, no. 9, pg. 399-390 (SCOPUS-Cited Publication)

1996
  • Thong MK, Manonmani V, Siti Norlasiah I. Supernumerary chromosomes in mosaic Turner Syndrome. Med J Malaysia 1996; 51(4): 487-90. (SCOPUS-Cited Publication)
  • Thong MK, Lim CT, Koh MT, Kumar GG. The Lissencephalic Syndromes. Med J Malaysia 1996; 51(3): 353-7. (SCOPUS-Cited Publication)
  • Hany A, Thong MK, Lin HP. X-linked lymphoproliferative disease in a Malaysian family. Singapore Med. Journal 1996; 37: 325-7. (SCOPUS-Cited Publication)

1995
  • Lum LCS, Thong MK, Cheah YK, Lam SK. Dengue-associated adult respiratory distress syndrome. Annals of Tropical Paediatrics: International Child Health 1995; 15: 335-9. 

1994
  • Thong MK, Tan A, Lin HP, Jayaram G. 1994. Malignant Rhabdoid Tumour of the Kidney. The Journal of Singapore Paediatric Society 36(3,4): 153-6. 

Review
2001
  • Thong MK, Choy YS, Rowani MR. Inborn errors of metabolism. Malaysian Journal of Paediatrics and Child Health 2001, 13 (1&2) : 19-26. (Non-ISI/Non-SCOPUS Cited Publication)

Proceeding
2015
  • Chew HB, Ong WP, Haniffa MA, Leong HY, Krishnan T, Poh RY, Thong MK, Ishak MT, Keng WT. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance. Proceedings of the 11th Asia-Pacific Conference on Human Genetics 2015Ann Transl Med 2015;3(S2):AB085. doi: 10.3978/j.issn.2305-5839.2015.AB085 (SCOPUS-Cited Publication)
  • Putri Junaida Megat Yunus, Pavai Sthaneshwar, Thong Meow Keong, Tay Chee Geap, Kartini Rahmat. L-2- Hydroxyglutaric aciduria: a case report. Proceedings of the AACC (American Association of Clinical Chemistry) 2015 Annual Meeting and Clinical Lab Expo, Atlanta Georgia USA 26-30 July 2015. (ISI/SCOPUS Cited Publication)
  • Mazlan RA, Barlow-Stewart K, Gleeson M, Hwang TS, Yee YS, Hooi TG, Thong MK, Taib NA. Treatment- focused genetic testing (TFGT) is it too soon for Malaysia? Proceedings of the 11th Asia-Pacific Conference on Human Genetics 2015. Ann Transl Med 2015;3(S2):AB147. doi: 10.3978/ j.issn.2305- 5839.2015.AB147 (SCOPUS-Cited Publication)
  • Muthukanoo RD, Loke MF, Choo YM, Kamar AA, Ishak MT, Vadivelu J, Thong MK. Comparative metabolomic analyses in term and preterm Malaysian infants. Proceedings of the 11th Asia-Pacific Conference on Human Genetics 2015. Ann Transl Med 2015;3(S2):AB145. doi: 10.3978/ j.issn.2305- 5839.2015.AB145 (SCOPUS-Cited Publication)
  • Muthukumarasamy P, Thong MK. Berardinelli-Seip congenital lipodystrophy and its diagnostic implications. Proceedings of the 11th Asia-Pacific Conference on Human Genetics 2015. Ann Transl Med 2015;3(S2):AB143. doi: 10.3978/j.issn.2305- 5839.2015.AB143 (SCOPUS-Cited Publication)
  • Thong MK. Personalized and precision medicine: are we there yet? Proceedings of the 11th Asia-Pacific Conference on Human Genetics 2015 Ann Transl Med 2015;3(S2):AB006. doi: 10.3978/j.issn.2305- 5839.2015.AB006 (SCOPUS-Cited Publication)

2014
  • Thong MK, Ambrose KK, Taufik I, Lian LH, Goh KJ, Wong KT, Ahmad-Annuar A Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type patients. Proceedings of the 64th American Society of Human Genetics, San Diego, page 640 abstract 1359T (Non-ISI/Non-SCOPUS Cited Publication)
  • Thong M.K, Thurga, K, Poh, RYY, Taufik, I, Chew, HB, Ch ng, GS, Keng, WT. Characterisation of Malaysian children with Beckwith-Wiedemann syndrome and Russell-Silver syndrome using methylation-specific multiplex ligation-dependent probe amplification. Proceedings of the 64th American Society of Human Genetics, San Diego, page 640 abstract 2585S (Non-ISI/Non-SCOPUS Cited Publication)

2013
  • Krishnan T, Poh R, Ishak T, Chew HB, Ch ng GS, Keng WT, Thong MK. The Molecular Bases for Beckwith-Wiedemann Syndrome and Russell-Silver Syndrome. Proceeding of the 1st National Conference for Cancer Research & 5th Regional Conference on Molecular Medicine (RCMM) 8-10th November 2013, The Royale Chulan, Kuala Lumpur. Asia- Pacific Journal of Molecular Medicine 2013, 3 (SUPP 1) 
  • Krishnan T, Poh R, Ishak T, Chew HB, Ch ng GS, Keng WT, Thong MK. Methylation status in Malaysian children with Beckwith-Wiedemann Syndrome and Russell-Silver Syndrome. Proceeding of the University of Malaya Researchers Conference 2013.(UMRC2013) 

2012
  • Lee J.M.H., Chew H.B. and Thong M.K. A Review of Genetic Counselling Service in 2005 and 2011 at the University of Malaya Medical Centre. Proceedings of the 10th Asia-Pacific Conference on Human Genetics 5th 8th December 2012, Crowne Plaza Mutiara Hotel, Kuala Lumpur. (Poster presentation) (Non-ISI/Non-SCOPUS Cited Publication)
  • Chew HB, Lee WS, Boey CCM, Lee JMH, Zabedah MY, Thong MK. Classical Galactosemia with GALT mutations in a Malaysian female: a 14-year follow-up. Proceedings of the 10th Asia-Pacific Conference on Human Genetics 5th 8th December 2012, Crowne Plaza Mutiara Hotel, Kuala Lumpur. (Poster presentation) (Non-ISI/Non-SCOPUS Cited Publication)
  • Taib NA, Woo YL, Yoon SY, Kartini R,Thong MK, Yip CH and Teo SH. Early experience in a breast and ovarian cancer risk management clinic in Malaysia. Proceedings of the 10th Asia-Pacific Conference on Human Genetics 5th 8th December 2012, Crowne Plaza Mutiara Hotel, Kuala Lumpur. (Oral presentation) (Non-ISI/Non-SCOPUS Cited Publication)
  • Thong MK. Citrin Deficiency: Reflections on a Pan- Ethnic Disorder and the Way Forward. Special Symposium on Citrin Deficiency in Memory of Dr Keiko Kobayashi. Proceedings of the 10th Asia-Pacific Conference on Human Genetics 5th 8th December 2012, Crowne Plaza Mutiara Hotel, Kuala Lumpur. (Non-ISI/Non-SCOPUS Cited Publication)
  • Kang PCE, Kang IN, Sivanandan K, Thirthagiri E, Phuah SY, Miao H, Hartman M, Yoon SY, Thong MK, Mohd Taib NA, Yip CH, Teo SH. BRCA1 & BRCA2 mutations in Malaysian breast cancer patients. Proceedings of the 10th Asia-Pacific Conference on Human Genetics 5th 8th December 2012, Crowne Plaza Mutiara Hotel, Kuala Lumpur. (Oral presentation) (Non-ISI/Non-SCOPUS Cited Publication)

2010
  • Looi RY, Thong MK, Goh KJ, Ahmad-Annuar A, Shahrizaila N, Thomas T, Khoo TB, Wong KT. 2010. Genetic mutations in sarcoglycanopathies in a Malaysian population. 15th International Congress of the World Muscle Society, Kumamoto, Japan. 12-16 October 2010. Abstract in Neuromuscular Disorders 2010; 20: 609-10. (ISI/SCOPUS Cited Publication)
  • Thong MK, Taufik I, Goh KJ, Azlina AA, Wong KT. 2010. The Molecular Diagnosis of Myotonic Dystrophy in Malaysia. Proceedings of the The 11th International Child Neurology Congress (ICNC 2010) 2nd 7th May 2010, Cairo, Egypt. The International Journal of Child Neuropsychiatry 2010, Vol 7 (Supplement); 162 (SCOPUS-Cited Publication)
  • Thong MK, Ngu LH, Zabedah MY, Kobayashi K. 2010. Citrin Deficiency in Malaysian Children: Clinical & Laboratory Presentation and Outcome. Proceedings of The First Asian Congress for Inherited Metabolic Diseases (ACIMD). Japanese Journal for Inherited Metabolic Diseases. 2010; Vol 26: 61. ISSN 0912-0122. (SCOPUS-Cited Publication)

2008
  • Thong MK, Tan NH, Lian LH (2008) PBL showing a P.B.L. (Positive, Buoyant, Lucid) Trend? Graduating students self assessment. Abstracts of the 6th Biennial Asia-Pacific Conference on PBL in Health Sciences, pp43 

2004
  • Thong MK. Preimplantation Genetic Diagnosis and Controversies. In: Proceedings of the FAOPS (Federation of Asian and Oceanian Perinatal Societies) 2004 (Kuala Lumpur, April 14-18, 2004) Medimond S.r.l., pp 81-87. 

2003
  • Yik YI, Ramanujam TM, Hany A, Cheah PL, Thong MK. Childhood renal cell carcinoma. Med J Malaysia 2003; 58: 163-4. 

2000
  • Francis DEM., Boneh A, Thong MK. Breast-feeding is possible even if mother and baby have phenylketonuria. J Inherited Metabolic Disease 2000; 23 Suppl 1: 29 (ISI-Cited Publication)

Mass Media(Newspaper,radio,tv,popular Magazine)
2012
  • Interview with mass media on Multi-disciplinary management of Crouzon syndrome 4th December 2012 at Canselari Universiti Malaya with Prof Dr Hamdi (TNC UM), Prof Dato Dr Zainal, Assoc Prof Dr Dharmendra, Assoc Prof Dr Choo May May. 
  • Interview with Utusan Malaysia on "Penyakit Bawaan Genetik dan Sindrom Marfan" 4th October 2012 

AREAS OF RESEARCH
(Project title), (Role), (From)-(Until), (Source), (Level).


  • Birth Defects and Dysmorphology
  • Adult-onset Genetics
  • Malaysian registry for children with tuberous sclerosis complex (TSC), Co-Investigator, 2013-2014, Novartis (M) Sdn Bhd, National
  • Pulse Oximetry Screening for Critical Congenital Heart Defects in apparently well term newborns, Co-Researcher, 19/06/2012, Geran Penyelidikan Universiti Malaya (UMRG) - HTM (Wellness), 18/06/2013
  • Elucidation of The Mechanism and Rescue of the Human Neural Tube Defects Gene(s), Co-Investigator, 2012-2014, High Impact Research (HIR)
  • Investigating EphA2 phosphorylation and signalling mechanism in adhesion and fusion of the spinal neural tube, Co-Investigator, 2011-2015, High Impact Research (HIR)
  • Is the leading edge of neurulation an asymmetrical lamellipodia-like structure emanating from the surface ectoderm and whether this mirrors the human spina bifida condition?, Co-Investigator, 2010-2013, High Impact Research (HIR)
  • STUDY OF MICRO RIBONUCLEIC ACID (MIRNA) PATTERNS AND MESSENGER RNA SPLICING AMONG MYOTONIC DYSTROPHY (DM1) PATIENTS OF DIFFERENT AGES AND CLINICAL FEATURES, Principal Investigator(PI), 15/04/2010, High Impact Research (HIR), 14/04/2012
  • Study of micro ribonucleic acid (miRNA) patterns and messesnger RNA splicingamong myotonic dystrophy (RM1) patients of different ages and clinical features., Principal Investigator(PI), 2010-2012, Fundamental Research Grant Scheme (FRGS), National
  • Inborn errors of metabolism: a clinical and laboratory evaluation in acutely ill paediatric patients, Co-Investigator, 2009-2010, Geran Penyelidikan Universiti Malaya (UMRG), National
  • Confirmation of myotonic dystrophy among Malaysian patients., Principal Investigator(PI), 2008-2009, Short Term Research Fund (Vote F)(PJP), National
  • CONFIRMATION OF MYOTONIC DYSTROPHIC AMONG MALAYSIAN PATIENTS, Principal Investigator(PI), 01/03/2008, Short Term Research Fund (Vote F)(PJP), 30/09/2009
  • Problem based learning, Principal Investigator(PI), 2008, 
  • Genetic counselling, Principal Investigator(PI), 2008, 
  • Inherited metabolic disorders, Principal Investigator(PI), 2008, 
  • Collaborative project between University of Malaya and Cancer Research Initiatives Foundation (CARIF) 2007-2012. A Multi-Pronged Tackle of Three Cancers Relevant to Malaysians: Searching for the Presence of Predisposition Genes, Mutation Screening for Predisposition Genes for Risk Assessment for Breast, Oral and Nasopharyngeal Cancers., Co-Investigator, 2007-2012, IRPA, International
  • Detection of Familial Hypercholesterolemia gene mutation amongst the Malaysian population, Co-Investigator, 2006-2012, MOSTI
  • Epidemiology and prevention of major birth defects in the Kinta district, Perak, Malaysia, Principal Investigator(PI), 2002-2005, IRPA, National

CONSULTATION PROJECT/CONSULTANCY
(Project title), (Role), (From)-(Until), (Organisation).


  • Genetic Counselling for Familial Breast Cancer, Clinical Consultant, 2013-2016, Cancer Research Initiatives Foundation

AWARDS AND RECOGNITIONS
(Name of Award), (Awarding Institution), (Year Awarded), (Level).


  • ASPR Fellowship and Travel Award 2008, Asia Society for Pediatric Research and Pediatric Academic Societies USA, 2008, (INTERNATIONAL)
  • Best Free Paper Oral Presentation 2014, Perinatal Society of Malaysia, 2014, (INTERNATIONAL)
  • Certificate of Appreciation, International Society of Neonatal Screening, 2015, (INTERNATIONAL)
  • Certificate of Appreciation, National Hospital of Pediatrics, Vietnam, 2015, (INTERNATIONAL)
  • Fellow of the Academy of Medicine, Singapore, Academy of Medicine, Singapore, 2013, (INTERNATIONAL)
  • GOLD Medal award, for the invention PedigreePro A computer-aided system for the recording of hereditary diseases and analysis of genetic risk in a family , 3rd International Biotechnology Trade Exhibition, Conference & Awards, 2006, (INTERNATIONAL)
  • GOLD Medal, for the invention MyChild A computer-aided system for the monitoring of Growth and Development in Children & Pedigree Analysis , I.TEX 2007 (18th International Invention, Innovation, Industrial Design and Technology Exhibition), 2007, (INTERNATIONAL)
  • Recognition and certification as Clinical Geneticist by the Human Genetics Society of Australasia, a founding member of the International Federation of Human Genetics Societies and the first Malaysian to be awarded the above recognition. , Human Genetics Society of Australasia, 2000, (INTERNATIONAL)
  • The 8th Royal College of Physicians of London and Academy of Medicine of Malaysia Annual Research Award , Royal College of Physicians of London and Academy of Medicine of Malaysia , 2003, (INTERNATIONAL)
  • The Australia-Malaysia Fellowship for Research Excellence 2006 , The Australia-Malaysia Institute, Canberra, Australia , 2006, (INTERNATIONAL)
  • The Fulbright Scholar Award , The Fulbright Commission, US Department of State,, 2003, (INTERNATIONAL)

PRESENTATIONS
(Title), (Event), (Date Presented), (Organiser), (Level).


Pleanary/Keynote Speaker
  • Personalized and precision medicine: are we there yet?, 11th Asia-Pacific Conference on Human Genetics, 16 Sep 2015 to 18 Sep 2015, (International)
  • Genes, Medicine and Society: From Paediatrics to Genetic Counselling and Beyond, Syarahan Perdana Universiti Malaya, 15 Jul 2011 to 15 Jul 2011, University of Malaya, (University)
  • New Genetics and its Implications for Paediatric Practice., The 32nd Malaysian Paediatric Association annual congress, 15 Oct 2010 to 17 Oct 2010, Malaysian Paediatric Association, (National)
Invited Speaker
  • Genetic counselling and ethical issues, Clinical Management of thalassaemia 6th 7th August 2015, 06 Aug 2015 to 07 Aug 2015, UKM Molecular Biology Institute (UMBI) and Ministry of Health Malaysia, (National)
  • Country Report on Inborn Errors of Metabolism Malaysia, The 4th Asian Congress for Inherited Metabolic Diseases (ACIMD2015). March 19-22, 2015, 19 Mar 2015 to 22 Mar 2015, Taiwan Genetics SOciety, (International)
  • Personalized Medicine in Clinical Practice: Delivering on the Promise., Human Genome Meeting 2015 (HGM2015), 14 Mar 2015 to 17 Mar 2015, Human Genome Organisation (HUGO), (International)
  • Congenital Malformations: Are We Making Our Children Suffer?, Kuala Lumpur International Neonatology Conference, 12 Nov 2015 to 14 Nov 2015, University of Malaya; Perinatal Society of Malaysia; College of Paediatrics- Academy of Medicine of Malaysia, (International)
  • Orphan Diseases: Integrated Approach to Diagnosis and Care, 15th ASEAN Pediatric Federation COngress, 17 Sep 2014 to 20 Sep 2014, Malaysian Paediatric Association, (International)
  • Genetic counselling and genetic testing in the genomics era., The 8th International Conference on Genomics (ICG), 30 Oct 2013 to 01 Nov 2013, Beijing Genome Institute, (International)
  • Effective & On Time Treatment Case Study Impact of genetic counselling towards patient care., The Second Malaysia Conference on Rare Disorders, 25 Oct 2013 to 26 Oct 2013, Malaysia Rare Disorders Society, Malaysian Lysosomal Diseases Association, Malaysia Metabolic Society, (National)
  • Low-Cost Interventions for Children with Birth Defects and Developmental Disabilities in Asia Pacific Region., The 6th International Conference on Birth Defects and Disabilities in the Developing World (ICBD), 10 Nov 2013 to 13 Nov 2013, Asia-Pacific Society of Human Genetics and March of Dimes USA and Centers for Disease Control and Prevention (CDC USA), (International)
  • Genetic counseling and genetic testing in Malaysia in the genomics era., The 10th Malaysia Genetics Congress (MGC), 03 Dec 2013 to 05 Dec 2013, Genetics Society of Malaysia, (National)
  • Genetics of Craniosynostosis., Invited Speaker: Genetics of Craniosynostosis. Craniofacial Surgery Course 2012 Multidisciplinary Manangement of Patients with Craniofacial Deformities 20th 23rd November 2012, Faculty of Dentistry, University of Malaya. Organised by OMFS and Neurosurgery, UM in collaboration with OMFS The University of Hong Kong., 20 Nov 2012 to 23 Nov 2012, OMFS and Neurosurgery, University of Malaya, (University)
  • Metabolic Emergencies., Invited Speaker: Metabolic Emergencies. Symposium 19.3 Inborn errors of metabolism. The 14th Asia-Pacific Congress of Paediatrics and 4th Asian Pacific Congress of Pediatric Nursing organised by Asia Pacific Pediatric Association (APPA 2012), 8th 12th September 2012, Kuching Sarawak., 08 Sep 2012 to 12 Sep 2012, Asia Pacific Pediatric Association, (International)
  • Two lectures: Training to be a Paediatrician: Should research be part of it? and The 10 papers that changed my practice in clinical genetics., Invited Speaker: Two lectures: Training to be a Paediatrician: Should research be part of it? and The 10 papers that changed my practice in clinical genetics. 5th National Paediatirc Research Conference Excellence in Paediatrics . 23rd 24th June 2012, Academy of Medicine of Malaysia building, 23 Jun 2012 to 24 Jun 2012, College of Paediatrics Academy of Medicine of Malaysia, (National)
  • The Clinician in the Genomics Era: Are They Still Relevant?, Invited Speaker: The Clinician in the Genomics Era: Are They Still Relevant? UPM Research week 30th 31st May 2012, UPM Faculty of Health and Medical Sciences, Serdang., 31 May 2012 to 31 May 2012, UPM Medical and Health Science Faculty, (University)
  • 2 lectures: Update on Neurogenetics and Basic Genetics 101 and Rare Disorders, Invited Speaker: 2 lectures: Update on Neurogenetics and Basic Genetics 101 and Rare Disorders at the National Early Childhood Intervention Council (NECIC) 6-9th June 2012, Sibu Sarawak., 06 Jun 2012 to 09 Jun 2012, National Early Childhood Intervention Council (NECIC), (International)
  • Genetics of Congenital Heart Diseases, Invited Speaker: Genetics of Congenital Heart Diseases. Postgraduate Cardiology course, Dewan Jemerlang, University of Malaya, 20th November 2012, 20 Nov 2012, Department of Paediatrics, (National)
  • Genetic Screening: An Overview, The 5th Malaysian Conference on Healthy Ageing, 27 May 2010 to 29 May 2010, The Malaysian Healthy Ageing Society and UPM, (National)
  • Genetic Counselling in the Multi-Ethnic Asian Populations: Pitfalls and Challenges., The 9th Asia-Pacific Conference on Human Genetics. 30th Nov -3rd Dec 2010, 30 Nov 2010 to 03 Dec 2010, Asia-Pacific Society of Human Genetics, (International)
  • Psychosocial and Genetic Counseling issues in Prenatal Diagnosis for Inherited Metabolic Diseases at University of Malaya Medical Centre, Malaysia, The 52nd Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD) and 9th Asian Symposium of Asian Society for Inherited Metabolic Diseases,, 20 Oct 2010 to 23 Oct 2010, Asian Society for Inherited Metabolic Diseases, (International)
  • Malaysian National Neonatal Registry: Demographics and Outcome of Very Low Birth Weight (VLBW) Infants with Congenital Anomalies, The 9th Asia-Pacific Conference on Human Genetics. 30th Nov -3rd Dec 2010, 30 Nov 2010 to 03 Dec 2010, Asia Pacific Society of Human Genetics, (International)
Event Organiser
  • Citrin Deficiency: Reflections on a Pan-Ethnic Disorder and the Way Forward., 10th Asia-Pacific Conference on Human Genetics, 05 Dec 2012 to 08 Dec 2012, Asia-Pacific Society of Human Genetics, (International)
  • Rare Disorders and Basic Genetics 101., The First Malaysia Conference on Rare Disorders and Medical Genetics Conference 2011, 9-10th June 2011,, 09 Jun 2011 to 10 Jun 2011, Malaysian Rare Disorders Society and Medical Genetics Society of Malaysia, (National)
Oral
  • Treatment-focused genetic testing (TFGT) is it too soon for Malaysia?, 11th Asia-Pacific Conference on Human Genetics, 16 Sep 2015 to 18 Sep 2015, (International)
  • BRCA1 & BRCA2 mutations in Malaysian breast cancer patients., 10th Asia-Pacific Conference on Human Genetics, 05 Dec 2012 to 08 Dec 2012, Asia-Pacific Society of Human Genetics, (International)
Poster
  • Berardinelli-Seip congenital lipodystrophy and its diagnostic implications., 11th Asia-Pacific Conference on Human Genetics, 16 Sep 2015 to 18 Dec 2015, (International)
  • Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance., 11th Asia-Pacific Conference on Human Genetics, 16 Sep 2015 to 18 Sep 2015, (International)
  • Comparative metabolomic analyses in term and preterm Malaysian infants., 11th Asia-Pacific Conference on Human Genetics, 16 Sep 2015 to 18 Sep 2015, (International)
  • Characterization of Malaysian children with Beckwith-Wiedemann syndrome and Silver-Russell syndrome using methylation specific - multiplex ligation-dependent probe amplification, 64th American Society of Human Genetics Annual Meeting, 18 Oct 2014 to 22 Oct 2014, American Society of Human Genetics, (International)
  • Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type one patients, 64th American Society of Human Genetics Annual Meeting, 18 Oct 2014 to 22 Oct 2014, American Society of Human Genetics, (International)
  • Characterisation of Malaysian children with Beckwith-Wiedemann syndrome and Russell-Silver syndrome using methylation-specific multiplex ligation-dependent probe amplification., 64th American Society of Human Genetics annual scientific meeting, 18 Oct 2014 to 21 Oct 2014, (International)
  • Methylation status in Malaysian children with Beckwith-Wiedemann Syndrome and Russell-Silver Syndrome., University of Malaya Researchers Conference 2013.(UMRC2013) 19-20th November 2013,, 19 Nov 2013 to 20 Nov 2013, University of Malaya, (University)
  • The Molecular Bases for Beckwith-Wiedemann Syndrome and Russell-Silver Syndrome. Asia-Pacific Journal of Molecular Medicine 2013, 3 (SUPP 1), 1st National Conference for Cancer Research & 5th Regional Conference on Molecular Medicine (RCMM), 08 Nov 2013 to 10 Nov 2013, UKM UMBI, (International)
  • Genetic Analyses of Myotonic Dystrophy Type 1 in Malaysia., 10th Asia-Pacific Conference on Human Genetics, 05 Dec 2012 to 08 Dec 2012, Asia-Pacific Society of Human Genetics, (International)
  • Classical Galactosemia with GALT mutations in a Malaysian female: a 14-year follow-up., 10th Asia-Pacific Conference on Human Genetics, 05 Dec 2012 to 08 Dec 2012, Asia-Pacific Society of Human Genetics, (International)
  • A Review of Genetic Counselling Service in 2005 and 2011 at the University of Malaya Medical Centre., 10th Asia-Pacific Conference on Human Genetics, 05 Dec 2012 to 08 Dec 2012, Asia-Pacific Society of Human Genetics, (International)
  • Genetic mutations in dysferlinopathy in a Malaysian population, 15th International Congress of the World Muscle Society, 12 Oct 2010 to 16 Oct 2010, (International)
  • Genetic mutations in sarcoglycanopathies in a Malaysian population., 15th International Congress of the World Muscle Society, 12 Oct 2010 to 16 Oct 2010, (International)
  • The Molecular Diagnosis of Myotonic Dystrophy in Malaysia., The 11th International Child Neurology Congress (ICNC 2010), 01 Jul 2010, International Child Neurology Congress, (International)
Presenter
  • Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type patients., 64th American Society of Human Genetics annual scientific meeting, 18 Oct 2014 to 21 Oct 2015, (International)
  • Citrin Deficiency in Malaysian Children: Clinical & Laboratory Presentation and Outcome., The First Asian Congress for Inherited Metabolic Diseases (ACIMD)., 01 Jul 2010, Asian Society for Inherited Metabolic Diseases, (International)

SUPERVISION


Post Graduate Level
(Name of Degree), (Name of Candidates), (Title of Thesis), (Academic Session)
Completed
  • Masters Degree, Dr Ang Hak Lee, Prevalence and Risk Factors for Birth Defects in Patients admitted to the University of Malaya Medical Centre - a hospital-based study, 2005/2006
  • Masters Degree, Nam Hui Yin, Evaluation of HER2 amplification and over-expression (fluorescent in situ hybridisation) in recurrent and metastatic breast cancer among Malaysian patients
  • Masters Degree, Tin Yeo Gaik Ling, Software development for a Paediatric Drugs Prescribing System
  • Masters Degree, Wong Voon Fui, Paediatric Pedigree System
  • Masters Degree, Dr Revathi A/P Rajagopal, Rickets of Prematurity, 2006/2007
  • Masters Degree, Chen Bee Chin, Biochemical profile of disorders of purine and pyrimidine disorders in Malaysian children, 2008/2009
  • Masters Degree, Fong Cheng Boon, Denaturing High-Performance Liquid Chromatography Of MECP2 Gene In Malaysian Patients With Rett Syndrome., 2004/2005
  • Masters Degree, Dr Foo Hee Wei, Immune thrombocytopenic purpura, 2009/2010
  • Masters Degree, Dr Ng Ruey Terng, A Study of Children With Developmental Delay and Mental Retardation at UMMC Genetics Clinic, 2006/2007

Ongoing
  • Masters Degree, Dr Ainur Fadzlina Bt Ahmad Fuad, Down syndrome, 2008/2009
  • Masters Degree, Dr Vida Jawin, Screening for critical congenital heart diseases in newborns, 2010/2011
  • Masters Degree, Dr Nurul Azween, Pending, 2012/2013
  • Masters Degree, Dr Khoo Wee Vien, Pending, 2015/2016
  • Masters Degree, Dr Anusha Palakrishnan, Clinical and cardiac abnormalities in patients with Marfan syndrome, 2011/2012
  • Masters Degree, Dr Lailatul Nur Bt Ahmad Hanbali, Pending, 2014/2015
  • Masters Degree, Dr Zuraini Bt Sulaiman, Pending, 2014/2015

EXPERT LINKAGES
(Linkages Description), (Organisation), (Year of Involvement), (Duration), (Level).


  • Research Collaboration and Internship with University of California Irvine and University of Malaya, University of California, Irvine, 2015, 3, (International)

EXPERT/TECHNICAL CONTRIBUTIONS
(Activity), (Organisation), (Role), (From)-(Until), (Level).


  • Chairman, Organising Committee, 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics, Chairman, 2010-2012, (International)
  • Co-Chairman, Kuala Lumpur International Neonatology Conference (KLINC) 2015, University of Malaya, Perinatal Society of Malaysia, College of Paediatrics - Academy of Medicine of Malaysia, Chairman, 2015-2015, (International)
  • International Society of Neonatal Screening - Asia Pacific Regional Meeting, International Society of Neonatal Screening, Universiti Sains Malaysia, Chairman, 2015-2015, (International)

TEACHING
(Course Title), (Academic Session), (No of Student), (No of Contact Hours).


First Degree
  • Phase 2, 2012/2013, 40, 4
  • Phase 3A, 2012/2013, 40, 98
  • Phase 3B, 2012/2013, 200, 130
Diploma (If Applicable)
  • Graduate Diploma in Genetic Counselling, 2012/2013, 1, 34

EVALUATION ACTIVITIES
(Description), (Evaluation Activity),(Year).


  • Reviewer for journal Gene, Article In Journal ,  (2012-2012)
  • External Examiner, Year 4 MBBS Examination UCSI University 21st 23rd June 2013, Kuala Terengganu, Year 4 MBBS Clinical Examination UCSI University ,  (2013-2013)
  • Reviewer of PLOS ONE manuscript PONE-D-13-22426 SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in Asian patients, and the mutation distribution in a large pediatric cohort in China, Article In Journal ,  (2013-2013)
  • Reviewer for Neurology Asia, Article In Journal ,  (2013-2013)
  • External Examiner, Doctor of Medicine thesis: Subtelomeric aberrations in an Asian population (Hong Kong). Graduate Research School, The University of New South Wales. Australia. 30th July 2013, Thesis ,  (2013-2013)
  • Reviewer manuscript Annals of Academy of Medicine Singapore, Article In Journal ,  (2013-2013)
  • Editorial Board member, Journal of Pediatric and Neonatal Individualized Medicine, Article In Journal ,  (2012-2012)
  • Invitation to be Associate Editor of the journal "Frontiers in Pediatrics and Genetics", Article In Journal ,  (2013-2014)
  • Interview by The Star on the issue of Congenital abnormalities the main killer of infants published on the 12th December 2014 ., Interview by press ,  (2014)
  • Reviewer for Annals of the Academy of Medicine, Singapore - an ISI-cited journal, Article In Journal ,  (2014)
  • External Examiner Final Fellowship Examination (FCPS Part II Clinical and Viva-Voce) of Bangladesh College of Physicians and Surgeons (BCPS) in Paediatrics 12-14th July 2014, Dhaka, Bangladesh., External Examiner ,  (2014)
  • Reviewer for European Journal of Pediatrics - an ISI-cited journal, Article In Journal ,  (2014)
  • Interview by Kosmo! And Utusan Melayu on the 25th November 2014 regarding Genetic tests in cancers related to the International Medical Genetics Conference 2014 organised by the Medical Genetics Society of Malaysia, Interview by media ,  (2014)
  • Associate Editor, Applied and Translational Genomics journal, Article In Journal ,  (2014)
  • External Examiner Paediatric Undergraduate Modular Examination 31st October 2014 and supplementary examination 18th November 2014 Penang Medical College, Penang., External Examiner ,  (2014)
  • Associate Editor Frontiers in Pediatrics: Genetics, Article In Journal ,  (2014)
  • Reviewer for 3 journal articles in Neurology Asia - an ISI-cited journal, Article In Journal ,  (2015)
  • Editorial Board member, Journal of Pediatric and Neonatal Individualized Medicine, Article In Journal ,  (2015)
  • University of Sydney PhD thesis External examiner on the topic "Use of High Throughput Genomic Screening Technologies for Gene Discovery in Mendelian Disorders", Thesis ,  (2015-2015)
  • Associate Editor, Applied and Translational Genomics journa, Article In Journal ,  (2015)
  • Co-chairman for the Organizing Committee, Kuala Lumpur International Neonatology Conference (KLINC 2015), Conference Organizing committee ,  (2015)
  • External Examiner for Paediatrics Clinical Examination International Medical University 2015, External Examiner ,  (2015)
  • External Examiner for Paediatrics Clinical Examination Penang Medical College (Supplementary), External Examiner ,  (2015)

CONTRIBUTION TO SOCIETY
(Contribution To Society), (Level), (Start Date), (End Date).


  • Advisor to Malaysian Rare Disorders Society, (National), 01-Jan-04 until 31-Dec-15
  • Appointed Member, National Credentialling Committee for General Paediatrics and Clinical Genetics, (National), 04-Jan-10 until 31-Dec-15
  • Appointed member, National Committee for Enzyme Replacement Therapy, (National), 01-Jan-10 until 31-Dec-12
  • Executive committee member, Genetics Society of Malaysia, (National), 19-Mar-15 until 18-Mar-17
  • Interview by media Harian Metro on "Rare Disease", (National), 27-Jul-15 until 27-Jul-15
  • Interview by national newspaper "The Star" on 'Congenital abnormalities the main killer of infants', (National), 12-Dec-14 until 12-Dec-14
  • Interviu oleh media Utusan Malaysia berkenaan "Bantu kesan kanser: ujian genetik awal boleh bantu selamatkan individu yang terlibat", (National), 25-Nov-14 until 25-Nov-14
  • President College of Paediatrics, Academy of Medicine of Malaysia, (National), 16-Jun-15 until 30-Jun-16
  • President, Asia-Pacific Society of Human Genetics, (International), 10-Dec-12 until 18-Sep-15
  • Vice President, Medical Genetics SOciety of Malaysia, (National), 27-Jun-14 until 30-Jun-15