PERSONAL DETAIL


PROF. DR. THONG MEOW KEONG

Professor
Department of Paediatrics
Faculty of Medicine
 
  03-79492065
  03-79494704
  thongmk@um.edu.my
 Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, W.Persekutuan Kuala Lumpur, Malaysia
 
ResearcherID Link
  http://www.researcherid.com/rid/B-9960-2010

BIOGRAPHY


Professor Dr THONG Meow Keong studied medicine and trained in Paediatrics at the University of Malaya. He received genetics training in Singapore and 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 was recognized as the first board-certified clinical geneticist in Malaysia.

He established the first Genetics clinic with genetic counselling service at the University Hospital Kuala Lumpur in 1995 and headed the Genetics & Metabolism Unit at the Department of Paediatrics. He received a Doctorate in Medicine from University of Malaya in 2004, for research on the molecular genetics of beta thalassaemia and discovering the molecular basis of beta thalassaemia in the Kadazandusuns in Sabah.  

He has published over 100 peer-reviewed publications on research work done on genetic disorders that hitherto have not been well documented in the various Asian subpopulations. He co-authored 8 books, including Handbook of Hospital Paediatrics (2nd edition), Problem-based Learning in Medical Sciences and Rare Journeys of Love and 15 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 180 proceedings. He worked closely with the Ministry of Health Malaysia in developing the counselling module for thalassaemia and other clinical practice guidelines. He collaborated with the World Health Organization and March of Dimes in preparing a document on management of birth defects and haemoglobinopathies. He was the lead author for two policy papers on 'Rare Diseases in Malaysia' written in conjunction with the Institute of Democracy and Economic Affairs (IDEAS)

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. In 2019, he received the Minister of Education of Malaysia Award for Curriculum Design and Innovation 2019 as well as the University of Malaya Distinguished Researcher in Science Excellence Award. He is also a reviewer for international journal manuscripts, research grant applications as well as an examiner for national and international medical examinations in Sydney, Melbourne, Dhaka and Hong Kong. He co-authored the new Malaysian Paediatrics postgraduate curriculum in conjunction with the National Postgradaute Medical Curriculum Writing project.

He was the past President of the Asia-Pacific Society of Human Genetics, founding Vice President of the Medical Genetics Society of Malaysia, Chairman of the Clinical Genetics sub-speciality committee of the National Specialist Register Malaysia, appointed member of the Education committee member in Paediatrics by the Malaysian Medical Council 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. He organised the first UM-Chinese University of Hong Kong Certificate Course in Clinical Genetics and Genomics at the University of Malaya. He was also appointed the Head, Genetic Medicine unit of the University Malaya Medial Centre. 

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. He is involved in gene therapy for patients and  other clinical trials for genetic diseases. He has obtained over 20 research grants and has international collaborations with renowned centres in Australia, Saudi Arabia, USA, Japan and Hong Kong. He has been elected as a Fellow of Academy of Medicine of Malaysia, Academy of Medicine, Singapore and Academy of Sciences Malaysia.


ACADEMIC QUALIFICATION
(Qualification), (Institution).



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


  • Malaysian Paediatric Association, Life Member, 1995, (National)
  • Persatuan Genetik Malaysia, Ajk, Member, 1996 to 2020, (National)
  • Medical Genetics Society of Malaysia, Vice President, 2012, (National)
  • College of Paediatrics, Academy of Medicine of Malaysia, Chairman, 2012 to 2020, (National)
  • INTERNATIONAL FEDERATION OF HUMAN GENETICS SOCIETIES, Exco Member, 2015 to 2021, (International)

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


  • Head of Unit, University Malaya, 10/08/2019 to 11/08/2020 (Head of Genetic Medicine Unit, University of Malaya Medical Centre)
  • Ahli Jawatankuasa Ijazah Lanjutan Perubatan Pediatrik, National, 01/01/2019 to 31/12/2020
  • Ahli Jawatankuasa Penulisan Projek Kurikulum Nasional Sarjana Perubatan Klinikal, National, 01/09/2016 to 01/06/2020
  • Ahli JAWATANKUASA PROGRAM LATIHAN SUBKEPAKARAN atau FELLOWSHIP UM, University Malaya, 01/09/2016 to 01/09/2018 (JAWATANKUASA PROGRAM LATIHAN SUBKEPAKARAN dan FELLOWSHIP UM)
  • Jawatankuasa Jaminan Kualiti Akademik Fakulti Perubatan UM, Faculty, 01/05/2016 to 18/04/2018 (Ahli Jawatankuasa Jaminan Kualiti Akademik Fakulti Perubatan UM)
  • Supervisor, National, 07/03/2016 to 18/03/2016 (Penyelia Lapangan Bagi Penempatan Pelajar Sarjana Patologi USM di Jabatan Pediatrik UM)
  • Specialty Committee of the National Credentialing Committee for Paediatrics and Clinical Genetics, National, 04/01/2016 to 04/01/2018 (Member, Specialty Committee of the National Credentialing Committee for Paediatrics and Clinical Genetics)
  • Ahli Panel Penilai Geran Peruntukan Penyelidikan Pascasiswazah (PPP) Fakulti Perubatan Universiti Malaya, Faculty, 01/10/2015 to 30/09/2018
  • Ahli Jawatankuasa Penilaian Bagi Permohonan Geran Penyelidikan Di Bawah Tadbir Urus Institut Pengurusan & Pemantauan Penyelidikan (IPPP) Peringkat Universiti Malaya, University Malaya, 01/01/2015 to 30/12/2016
  • Steering committee member, National Postgraduate Medical Curriculum Writing committee, Faculty of Medicine, Faculty, 10/09/2014 to 31/12/2017 (The Project on National Postgraduate Medical Curriculum is on-going)
  • Ahli Jawatankuasa Penilaian Skim Geran Penyelidikan Fundamental (FRGS) Universiti Malaya, University Malaya, 18/04/2014 to 30/12/2016 (Reviewer of FRGS grants)
  • Ahli Jawatankuasa "National Credentialling Committee" untuk kepakaran Pediatrik dan subkepakaran 'Clinical Genetics', National, 04/01/2014 to 03/01/2016
  • Kordinator Keseluruhan Klinikal Peperiksaan MBBS Ketiga 2013/2014, Faculty, 01/01/2014 to 31/12/2014
  • Ahli Jawatankuasa Credentialing and Previleging Pusat Perubatan Universiti Malaya, University Malaya, 01/01/2014 to 31/12/2015
  • Chairman, Postgraduate Affairs, Department of Paediatrics, Paediatrics, Faculty of Medicine, 01/04/2013 to 31/12/2014
  • Panel member, Health and Translational Medicine Research Cluster, University Malaya, 01/01/2013 to 31/12/2014
  • Member of the Medical Advisory Committee, University of Malaya Medical Centre, Faculty, 01/11/2011 to 31/12/2015
  • Head of Department, Paediatrics, Faculty of Medicine, 01/07/2011 to 08/07/2011
  • Head of Department, Paediatrics, Faculty of Medicine, 01/09/2009 to 30/06/2011
  • Member Problem-based Learning committee, Faculty, 05/11/2002 to 31/12/2013 (Member Problem-Based Learning committee Faculty of Medicine UM)

AREAS OF EXPERTISE
(Area).


  • Medical Education (Problem-based Learning; National Postgraduate Medical Curriculum of Malaysia)
  • Medical Genetics (Genetic counselling, Birth Defects and Inborn Errors of Metabolism)
  • Paediatrics (Clinical Genetics and Genomics )


RECENT SELECTED PUBLICATIONS
(Publication).


Book

2019
  • Thong MK, Azlina A-A, Todd L, Vaisnavi MR. White Paper: Rare Diseases in Malaysia. (2019) Published by IDEAS (Institute for Democracy and Economic Affairs) Policy Research Berhad December 2019. 

2016
  • Thong M.K. (2016) Apakah itu sindrom Down? Second Edition 

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 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. 
  • 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. 
Chapter in Book

2019
  • Thong MK. (2019) Clinical Genetics In: Lee WS, Tay CG, Lum SH (editors) Textbook of Paediatrics and Child Health 2020 (pp 311-315) ISBN: 978-967-488-115-3 University of Malaya Press 

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. 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 
  • 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. 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. 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. 2009. Cardiorespiratory arrest. In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009. 
Article in Academic Journals

2020
  • Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, Thong MK. (2020) Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.J Clin Neurosci. 2020 Jan;72:468-471 doi: 10.1016/j.jocn.2019.12.007 (ISI-Indexed)
  • Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, Thong MK. (2020) Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors. J Clin Neurosci. 2020 Feb;72:468-471. (ISI-Indexed)
  • Shafie AA, Supian A, Ahmad Hassali MA, Ngu L-H, Thong M-K, Ayob H, et al. (2020) Rare disease in Malaysia: Challenges and solutions. PLoS ONE 15(4): e0230850. (ISI-Indexed)
  • Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. (2020) Turner syndrome in diverse populations. Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461 (ISI-Indexed)
  • Li, LM; Fong, CY; Tay, CG; Tae, SK; Suzuki, H; Kosaki, K; Thong, MK 2020. Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants. JOURNAL OF CLINICAL NEUROSCIENCE (ISI-Indexed)
  • Delatycki, MB; Alkuraya, F; Archibald, A; Castellani, C; Cornel, M; Grody, WW; Henneman, L; Ioannides, AS; Kirk, E; Laing, N; Lucassen, A; Massie, J; Schuurmans, J; Thong, MK; van Langen, I; Zlotogora, J 2020. International perspectives on the implementation of reproductive carrier screening. PRENATAL DIAGNOSIS (ISI-Indexed)
  • Kruszka, P; Addissie, YA; Tekendo-Ngongang, C; Jones, KL; Savage, SK; Gupta, N; Sirisena, ND; Dissanayake, VHW; Paththinige, CS; Aravena, T; Nampoothiri, S; Yesodharan, D; Girisha, KM; Patil, SJ; Jamuar, SS; Goh, JCY; Utari, A; Sihombing, N; Mishra, R; Chitrakar, NS; Iriele, BC; Lulseged, E; Megarbane, A; Uwineza, A; Oyenusi, EE; Olopade, OB; Fasanmade, OA; Duenas-Roque, MM; Thong, MK; Tung, JYL; Mok, GTK; Fleischer, N; Rwegerera, GM; de Herreros, MB; Watts, J; Fieggen, K; Huckstadt, V; Moresco, A; Obregon, MG; Hussen, DF; Ashaat, NA; Ashaat, EA; Chung, BHY; Badoe, E; Faradz, SMH; El Ruby, MO; Shotelersuk, V; Wonkam, A; Ekure, EN; Phadke, SR; Richieri-Costa, A; Muenke, M 2020. Turner syndrome in diverse populations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (ISI-Indexed)
  • Li L, Fong CY, Tay CG, Tae SK, Suzuki H, Kosaki K, Thong MK. (2020) Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants. J Clin Neurosci, 71:289-292. (ISI-Indexed)

2019
  • Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. (2019) Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 179(2):150-158. (ISI-Indexed)
  • Thong MK. (2019) Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions. Am J Med Genet C Semin Med Genet. 181(2):254-261. (ISI-Indexed)
  • Khoo Erwin, Chua SH, Thong MK, Bin Alwi Zilfalil, Lantos J. (2019) Introducing clinical ethics consultation service in Malaysia: A SWOT analysis. Clinical Ethics 14(1):26-32. (SCOPUS-Indexed)
  • Cutiongco-de la Paz EM, Chung BH, Faradz SMH, Thong MK, David-Padilla C, Lai PS, Lin SP, Chen YH, Sura T, Laurino M. Training in clinical genetics and genetic counseling in Asia.(2019) Am J Med Genet C Semin Med Genet. 181(2):177-186.: (ISI-Indexed)
  • Fong, CY; Ng, K; Kong, AN; Ong, LC; Rithauddin, MA; Thong, MK; Ganesan, V; Heng, HS; Teh, CM; Yahya, N 2019. Quality of life of children with tuberous sclerosis complex. ARCHIVES OF DISEASE IN CHILDHOOD (ISI-Indexed)
  • Wasant P, Padilla C, Lam S, Thong MK, Lai PS. (2019) Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):155-165 (ISI-Indexed)
  • Fong CY, Ng K, Kong AN, Ong LC, Rithauddin MA, Thong MK, Ganesan V, Heng HS, Teh CM, Yahya N. (2019) Quality of life of children with tuberous sclerosis complex. Arch Dis Child. 104(10):972-978 (ISI-Indexed)
  • Leong HY, Abdul Azize NA, Chew HB, Keng WT, Thong MK, Mohd Khalid MKN, Hung LC, Mohamed Zainudin N, Ramlee A, Md Haniffa MA, Yakob Y, Ngu LH. (2019) Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. Orphanet J Rare Dis. 2019 Jun 14;14(1):143. (ISI-Indexed)
  • Zahari N, Mat Bah MN, A Razak H, Thong MK. (2019) Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country. Eur J Pediatr. 178(8):1267-1274. d (ISI-Indexed)
  • Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J.(2019) International perspectives on the implementation of reproductive carrier screening.Prenat Diagn. 2019 Nov 27. (ISI-Indexed)
  • Thong MK, Qian E, Flodman P, Gargus J.(2019) A comparative study of patients' perceptions of genetic and genomic medicine services in California and Malaysia. J Community Genet. Volume 10, Issue 3, pp 351–361 (ISI-Indexed)
  • Hussein, MH; Ow, SH; Cheong, LS; Thong, MK 2019. A Digital Game-Based Learning Method to Improve Students Critical Thinking Skills in Elementary Science. IEEE ACCESS (ISI-Indexed)
  • Zahari, N; Bah, MNM; Razak, HA; Thong, MK 2019. Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country. EUROPEAN JOURNAL OF PEDIATRICS (ISI-Indexed)
  • Leong, HY; Azize, NAA; Chew, HB; Keng, WT; Thong, MK; Khalid, MKNM; Hung, LC; Zainudin, NM; Ramlee, A; Haniffa, MAM; Yakob, Y; Ngu, LH 2019. Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study. ORPHANET JOURNAL OF RARE DISEASES (ISI-Indexed)
  • Cutiongco-de la Paz, EM; Chung, BHY; Faradz, SMH; Thong, MK; David-Padilla, C; Lai, PS; Lin, SP; Chen, YH; Sura, T; Laurino, M 2019. Training in clinical genetics and genetic counseling in Asia. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (ISI-Indexed)
  • Mahmood H. Hussein, Siew Hock Ow, Loh Sau Cheong, Meow-Keong Thong, & Nader Ale Ebrahim. (2019). Effects of digital game-based learning on elementary science learning: A systematic review. IEEE Access, 7, 62465-62478. (ISI-Indexed)
  • Dowsett, L; Porras, AR; Kruszka, P; Davis, B; Hu, T; Honey, E; Badoe, E; Thong, MK; Leon, E; Girisha, KM; Shukla, A; Nayak, SS; Shotelersuk, V; Megarbane, A; Phadke, S; Sirisena, ND; Dissanayake, VHW; Ferreira, CR; Kisling, MS; Tanpaiboon, P; Uwineza, A; Mutesa, L; Tekendo-Ngongang, C; Wonkam, A; Fieggen, K; Batista, LC; Moretti-Ferreira, D; Stevenson, RE; Prijoles, EJ; Everman, D; Clarkson, K; Worthington, J; Kimonis, V; Hisama, F; Crowe, C; Wong, P; Johnson, K; Clark, RD; Bird, L; Masser-Frye, D; McDonald, M; Willems, P; Roeder, E; Saitta, S; Anyane-Yeoba, K; Demmer, L; Hamajima, N; Stark, Z; Gillies, G; Hudgins, L; Dave, U; Shalev, S; Siu, V; Ades, A; Dubbs, H; Raible, S; Kaur, M; Salzano, E; Jackson, L; Deardorff, M; Kline, A; Summar, M; Muenke, M; Linguraru, MG; Krantz, ID 2019. Cornelia de Lange syndrome in diverse populations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (ISI-Indexed)
  • Hussein, MH; Ow, SH; Cheong, LS; Thong, MK; Ebrahim, NA 2019. Effects of Digital Game-Based Learning on Elementary Science Learning: A Systematic Review. IEEE ACCESS (ISI-Indexed)
  • Thong, MK 2019. Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (ISI-Indexed)
  • Wasant, P; Padilla, C; Lam, S; Thong, MK; Lai, PS 2019. Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (ISI-Indexed)
  • Bancroft, EK; Saya, S; Page, EC; Myhill, K; Thomas, S; Pope, J; Chamberlain, A; Hart, R; Glover, W; Cook, J; Rosario, DJ; Helfand, BT; Selkirk, CH; Davidson, R; Longmuir, M; Eccles, DM; Gadea, N; Brewer, C; Barwell, J; Salinas, M; Greenhalgh, L; Tischkowitz, M; Henderson, A; Evans, DG; Buys, SS; Eeles, RA; Aaronson, NK; Eeles, R; Bancroft, E; Page, E; Kote-Jarai, Z; Ardern-Jones, A; Bangma, C; Castro, E; Dearnaley, D; Falconer, A; Foster, C; Gronberg, H; Hamdy, FC; Johannsson, OT; Khoo, V; Eccles, D; Lilja, H; Evans, G; Eyfjord, J; Lubinski, J; Maehle, L; Mikropoulos, C; Millner, A; Mitra, A; Offman, J; Moynihan, C; Rennert, G; Suri, M; Dias, A; Taylor, N; DMello, L; Pope, J; James, P; Mitchell, G; Shanley, S; Richardson, K; McKinley, J; Petelin, L; Murphy, M; Mascarenhas, L; Murphy, D; Lam, J; Taylor, L; Miller, C; Stapleton, A; Chong, M; Suthers, G; Poplawski, N; Tucker, K; Andrews, L; Duffy, J; Millard, R; Ward, R; Williams, R; Stricker, P; Kirk, J; Bowman, M; Patel, M; Harris, M; OConnell, S; Hunt, C; Smyth, C; Frydenberg, M; Lindeman, G; Shackleton, K; Morton, C; Susman, R; McGaughran, J; Boon, M; Pachter, N; Townshend, S; Schofield, L; Nicholls, C; Spigelman, A; Gleeson, M; Amor, D; Burke, J; Patterson, B; Swindle, P; Scott, R; Foulkes, W; Boshari, T; Aprikian, A; Jensen, T; Bojeson, A; Osther, P; Skytte, AB; Cruger, D; Tondering, MK; Gerdes, AM; Schmutzler, R; Rhiem, K; Wihler, P; Kast, K; Griebsch, C; Johannsson, O; Stefansdottir, V; Murthy, V; Sarin, R; Awatagiri, K; Ghonge, S; Kowtal, P; Mulgund, G; Gallagher, D; Bambury, R; Farrell, M; Gallagher, F; Kiernan, I; Friedman, E; Chen-Shtoyerman, R; Basevitch, A; Leibovici, D; Melzer, E; Ben-Yehoshua, SJ; Nicolai, N; Radice, P; Valdagni, R; Magnani, T; Gay, S; Teo, SH; Tan, HM; Yoon, SY; Thong, MK; Vasen, H;  2019. Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations. BJU INTERNATIONAL (ISI-Indexed)

2018
  • Laurino MY, Leppig KA, Abad PJ, Cham B, Chu YWY, Kejriwal S, Lee JMH, Sternen DL, Thompson JK, Burgess MJ, Chien S, Elackatt N, Lim JY, Sura T, Faradz S, Padilla C, Paz ECD, Nauphar D, Nguyen KN, Zayts O, Vu DC, Thong MK. (2018) A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia. J Genet Couns. 27(1):21-32. (ISI-Indexed)
  • Maddirevula S, AlZahrani F, Anazi S, Almureikhi M, Ben-Omran T, Abdel-Salam GMH, Hashem M, Ibrahim N, Abdulwahab FM, Meriki N, Bashiri FA, Thong MK, Muthukumarasamy P, Azwani Mazlan R, Shaheen R, Alkuraya FS. (2018). GWAS signals revisited using human knockouts. Genet Med. 20(1):64-68. (ISI-Indexed)
  • Tan MM, Ho WK, Yoon SY, Mariapun S, Hasan SN, Lee DS, Hassan T, Lee SY, Phuah SY, Sivanandan K, Ng PP, Rajaram N, Jaganathan M, Jamaris S, Islam T, Rahmat K, Fadzli F, Vijayananthan A, Rajadurai P, See MH, Thong MK, Mohd Taib NA, Yip CH, Teo SH. (2018) A case-control study of breast cancer risk factors in 7,663 women in Malaysia. PLoS One. 14;13(9):e0203469. doi: 10.1371/journal.pone.0203469 (ISI-Indexed)
  • Thong MK, See-Toh Y, Hassan J, Ali J. (2018) Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities. Genet Med. 20(10):1114-1121. (ISI-Indexed)
  • Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. (2018) Williams-Beuren syndrome in diverse populations. Am J Med Genet A. 176(5):1128-1136. (ISI-Indexed)
  • Tan, MM; Ho, WK; Yoon, SY; Mariapun, S; Hasan, SN; Lee, DSC; Hassan, T; Lee, SY; Phuah, SY; Sivanandan, K; Ng, PPS; Rajaram, N; Jaganathan, M; Jamaris, S; Islam, T; Rahmat, K; Fadzli, F; Vijayananthan, A; Rajadurai, P; See, MH; Thong, MK; Taib, NAM; Yip, CH; Teo, SH 2018. A case-control study of breast cancer risk factors in 7,663 women in Malaysia. PLOS ONE (ISI-Indexed)

2017
  • Ngim CF, Lai NM, Hong JY, Tan SL, Ramadas A, Muthukumarasamy P, Thong MK. (2017) Growth hormone therapy for people with thalassaemia. Cochrane Database Syst Rev. 2017 Sep 18;9:CD012284. doi: 10.1002/14651858.CD012284.pub2 (ISI-Indexed)
  • Rokicki D, Pajdowska M, Trubicka J, Thong MK; Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Hajdar R, Ołtarzewski M, Jabłońska E, Muthukumarasamy P, Sthaneswar P, Gan CS, Krajewska-Walasek M, Carrozzo R, Verrigni D, Semeraro M, Rizzo C, Taurisano R, Alhaddad B, Kovacs-Nagy R, Haack TB, Dionisi-Vici C, Pronicka E, Wortmann SB (2017) 3-methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency Clinica Chimica Acta 2017; 471: 95-100 (ISI-Indexed)
  • Sahmat A, Gunasekaran R, Mohd-Zin SW, Balachandran L, Thong MK, Engkasan JP, Ganesan D, Omar Z, Azizi AB, Ahmad-Annuar & Abdul-Aziz NM. The prevalence and distribution of spina bifida in a single major referral center in Malaysia. Front. Pediatr. 5:237. doi:10.3389/fped.2017.00237 (ISI-Indexed)
  • Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL, Kaplan JD, Abdul-Rahman OA, Uwineza A, Mutesa L, Moresco A, Obregon MG, Richieri-Costa A, Gil-da-Silva-Lopes VL, Adeyemo AA, Summar M, Zackai EH, McDonald-McGinn DM, Linguraru MG, Muenke M. (2017) 22q11.2 deletion syndrome in diverse populations Am J Med Genet A. 2017 Apr;173(4):879-888 (ISI-Indexed)
  • Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, Kaplan JD, Abdul-Rahman OA, Vincent LM, Love A, Belhassan K, Ouldim K, El Bouchikhi I, Shukla A, Girisha KM, Patil SJ, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Klein-Zighelboim E, Gallardo Jugo BE, Chávez Pastor M, Abarca-Barriga HH, Skinner SA, Prijoles EJ, Badoe E, Gill AD, Shotelersuk V, Smpokou P, Kisling MS, Ferreira CR, Mutesa L, Megarbane A, Kline AD, Kimball A, Okello E, Lwabi P, Aliku T, Tenywa E, Boonchooduang N, Tanpaiboon P, Richieri-Costa A, Wonkam A, Chung BHY, Stevenson RE, Summar M, Mandal K, Phadke SR, Obregon MG, Linguraru MG, Muenke M. (2017) Noonan Syndrome in Diverse Populations Am J Med Genet A. 2017 Jul 27. doi: 10.1002/ajmg.a.38362. (ISI-Indexed)
  • Chua SS, Choo SM, Sulaiman CZ, Omar A, Thong MK. (2017) Effects of Sharing Information on Drug Administration Errors in Paediatric Wards: A Pre-Post Intervention Study. Therapeutics and Clinical Risk Management 2017; 13: 345-353 (ISI-Indexed)
  • Antony CD, Thong MK, Rahmat K, Muridan R. (2017) Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings. Neurol India. 2017;65(Supplement):S98-S100 (ISI-Indexed)
  • Ambrose KK, Taufik I, Lian LH, Goh KJ, Wong KT,Ahmad-Annuar A, Thong MK (2017) Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients Neurology India 2017 May-Jun;65(3):512-517. doi: 10.4103/neuroindia.NI_237_16 (ISI-Indexed)
  • Ambrose, KK; Ishak, T; Lian, LH; Goh, KJ; Wong, KT; Ahmad-Annuar, A; Thong, MK 2017. Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia. BMJ OPEN (ISI-Indexed)
  • Chua, SS; Choo, SM; Sulaiman, CZ; Omar, A; Thong, MK 2017. Effects of sharing information on drug administration errors in pediatric wards: a pre-post intervention study. THERAPEUTICS AND CLINICAL RISK MANAGEMENT (ISI-Indexed)
  • Kathlin K. Ambrose, Ishak Taufik, Lay H. Lian, Khean J. Goh, Kum T. Wong, Azlina Ahmad-Annuar, Meow-Keong Thong. (2017) Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia. BMJ Open 2017;7: e010711 (ISI-Indexed)
  • Kruszka, P; Addissie, YA; McGinn, DE; Porras, AR; Biggs, E; Share, M; Crowley, TB; Chung, BHY; Mok, GTK; Mak, CCY; Muthukumarasamy, P; Thong, MK; Sirisena, ND; Dissanayake, VHW; Paththinige, CS; Prabodha, LBL; Mishra, R; Shotelersuk, V; Ekure, EN; Sokunbi, OJ; Kalu, N; Ferreira, CR; Duncan, JM; Patil, SJ; Jones, KL; Kaplan, JD; Abdul-Rahman, OA; Uwineza, A; Mutesa, L; Moresco, A; Obregon, MG; Richieri-Costa, A; Gil-Da-Silva-Lopes, VL; Adeyemo, AA; Summar, M; Zackai, EH; McDonald-McGinn, DM; Linguraru, MG; Muenke, M 2017. 22q11.2 deletion syndrome in diverse populations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (ISI-Indexed)
  • Thong MK, Sofiah A, Park YE , Kim DS, Goh KJ, Wong KT.(2017) Congenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl. Neurology Asia 2017; 22(2): 155-159 (ISI-Indexed)
  • Kruszka, P; Porras, AR; Sobering, AK; Ikolo, FA; La Qua, S; Shotelersuk, V; Chung, BHY; Mok, GTK; Uwineza, A; Mutesa, L; Moresco, A; Obregon, MG; Sokunbi, OJ; Kalu, N; Joseph, DA; Ikebudu, D; Ugwu, CE; Okoromah, CAN; Addissie, YA; Pardo, KL; Brough, JJ; Lee, NC; Girisha, KM; Patil, SJ; Ng, ISL; Min, BCW; Jamuar, SS; Tibrewal, S; Wallang, B; Ganesh, S; Sirisena, ND; Dissanayake, VHW; Paththinige, CS; Prabodha, LBL; Richieri-Costa, A; Muthukumarasamy, P; Thong, MK; Jones, KL; Abdul-Rahman, OA; Ekure, EN; Adeyemo, AA; Summar, M; Linguraru, MG; Muenke, M 2017. Down Syndrome in Diverse Populations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A (ISI-Indexed)
  • Luk ADW, Lee PP, Mao H, Chan KW, Chen XY, Chen TX, He JX, Kechout N, Suri D, Tao YB, Xu YB, Jiang LP, Liew WK, Jirapongsananuruk O, Daengsuwan T, Gupta A, Singh S, Rawat A, Abdul Latiff AH, Lee ACW, Shek LP, Nguyen TVA, Chin TJ, Chien YH, Latiff ZA, Le TMH, Le NNQ, Lee BW, Li Q, Raj D, Barbouche MR, Thong MK, Ang MCD, Wang XC, Xu CG, Yu HG, Yu HH, Lee TL, Yau FYS, Wong WH, Tu W, Yang W, Chong PCY, Ho MHK, Lau YL. (2017) Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency. Front Immunol. 2017 Jul 12;8:808. doi: 10.3389/fimmu.2017.00808. (ISI-Indexed)
  • Laurino MY, Leppig KA, Abad PJ, Cham B, Chu YWY, Kejriwal S, Lee JMH, Sternen DL, Thompson JK, Burgess MJ, Chien S, Elackatt N, Lim JY, Sura T, Faradz S, Padilla C, Paz ECD, Nauphar D, Nguyen KN, Zayts O, Vu DC, Thong MK. (2017) A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia. J Genet Couns. 2017 Jul 11. doi: 10.1007/s10897-017-0115-6. (ISI-Indexed)
  • 68.Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BHY, Mok GTK, Uwineza A, Mutesa L, Moresco A, Obreg n MG, Sokunbi OJ, Kalu N, Joseph DJ, Ikebudu D, Ugwu CE, Okoromah CAN, Addissie YA, Pardo KL, Brough JJ, Lee N-C, Girisha KM, Patil SJ. Ng ISL, Min BCW, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VHW, Paththinige CS, Prabodha LBL, Richeiri-Costa A, Muthukumarasamy P, Thong M-K, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo A, Summar M, Linguraru MG, Muenke M. (2017) Down syndrome in diverse populations. American Journal of Medical Genetics Part A 173A: 42-53 (ISI/SCOPUS Indexed Publication)

2016
  • Ng PS1, Wen WX2, Fadlullah MZ3, Yoon SY4, Lee SY5, Thong MK6, Yip CH7, Mohd Taib NA8,9, Teo SH . 2016. Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. Clin Genet. doi: 10.1111/cge.12735. (ISI-Indexed)
  • Ng, P. S., Wen, W. X., Fadlullah, M. Z. H., Yoon, S. Y., Lee, S. Y., Thong, M. K., Yip, C. H., Taib, N. A. M., Teo, S. H. 2016. Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. Clinical Genetics (ISI-Indexed)

2015
  • 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-Indexed)
  • Hashim AH, Etemad A, Latif AZ, Merican AF, Baig AA, Annuar AA, Ismail E, Salahshourifar I, Ahmad Tajudin LS, Ramli M, Shah MI, Johan MF, Hassan NN, Abdul-Aziz NM, Noor NH, Ab-Rajab NS, Hassan R, Bahar R, Zain RB, Yusoff SM, Yusoff S, Guan TS, Thong MK, Wan-Isa H, Abdullah WZ, Mohamed Z, Latiff ZA, Zilfalil BA; In alphabetical order, members of the Malaysian Node of the Human Variome Project. The first Malay database toward the ethnic-specific target molecular variation. BMC Res Notes. 2015 Apr 30;8(1):176 (SCOPUS-Indexed)
  • 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-Indexed)
  • 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-Indexed)
  • Choy, Y. S., Bhattacharya, K., Balasubramaniam, S., Fietz, M., Fu, A., Inwood, A., Jin, D. K., Kim, O. H., Kosuga, M., Kwun, Y. H., Lin, H. Y., Lin, S. P., Mendelsohn, N. J., Okuyama, T., Samion, H., Tan, A., Tanaka, A., Thamkunanon, V., Thong, M. K., Toh, T. H., Yang, A. D., McGill, J. 2015. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). Molecular Genetics and Metabolism (ISI-Indexed)
  • 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-Indexed)

2014
  • 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. (ISI-Indexed)
  • Chong, J. W., Annuar, A. A., Wong, K. T., Thong, M. K., Goh, K. J. 2014. Single mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) patients from a multiethnic Asian population. Neurology Asia (ISI-Indexed)
  • Kang, P. C. E., Phuah, S. Y., Sivanandan, K., Kang, I. N., Thirthagiri, E., Liu, J. J., Hassan, N., Yoon, S. Y., Thong, M. K., Hui, M., Hartman, M., Yip, C. H., Taib, N. A. M., Teo, S. H. 2014. 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 Research and Treatment (ISI-Indexed)
  • 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 Indexed Publication)

2013
  • 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-Indexed)
  • 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 Indexed Publication)
  • Lye SH, Chahil JK, Bagali P, Alex L, Vadivelu J, Ahmad WA, Chan SP, Thong MK, Zain SM, Mohamed R (2013) Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with Familial hypercholesterolemia in Malaysia. PLOS ONE Volume 8 | Issue 4 | e60729 (ISI-Indexed)
  • Lee, J. M. H., Thong, M. K. 2013. Genetic Counseling Services and Development of Training Programs in Malaysia Journal of Genetic Counseling. (Tier 4, Impact Factor = 1.454) (ISI-Indexed)
  • Phuah, S. Y., Lee, S. Y., Kang, P., Kang, I. N., Yoon, S. Y., Thong, M. K., Hartman, M., Sng, J. H., Yip, C. H., Taib, N. A. M., Teo, S. H. 2013. Prevalence of PALB2 Mutations in Breast Cancer Patients in Multi-Ethnic Asian Population in Malaysia and Singapore Plos One. (Tier 1, Impact Factor = 3.730) (ISI-Indexed)
  • Boo, N. Y., Cheah, I. G. S., Thong, M. K., Malaysian Natl Neonatal, R. 2013. Neural Tube Defects in Malaysia: Data from the Malaysian National Neonatal Registry Journal of Tropical Pediatrics. (Tier 2, Impact Factor = 1.006) (ISI-Indexed)
  • Lye, S. H., Chahil, J. K., Bagali, P., Alex, L., Vadivelu, J., Ahmad, W. A. W., Chan, S. P., Thong, M. K., Zain, S. M., Mohamed, R. 2013. Genetic Polymorphisms in LDLR, APOB, PCSK9 and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia Plos One. (Tier 1, Impact Factor = 3.730) (ISI-Indexed)
  • Zayts, O., Sarangi, S., Thong, M. K., Chung, B. H. Y., Lo, I. F. M., Kan, A. S. Y., Lee, J. M. H., Padilla, C. D., Cutiongco-de la Paz, E. M., Faradz, S. M. H., Wasant, P. 2013. 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. (Tier 4, Impact Factor = 1.454) (ISI-Indexed)
  • 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 Indexed Publication)

2012
  • 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 Indexed 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 Indexed Publication)
  • 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-Indexed)
  • Khositseth, S., Bruce, L. J., Walsh, S. B., Bawazir, W. M., Ogle, G. D., Unwin, R. J., Thong, M. K., Sinha, R., Choo, K. E., Chartapisak, W., Kingwatanakul, P., Sumboonnanonda, A., Vasuvattakul, S., Yenchitsomanus, P., Wrong, O. 2012. Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients Qjm-an International Journal of Medicine. (Tier 1, Impact Factor = 2.325) (ISI-Indexed)
  • Hwu, W. L., Okuyama, T., But, W. M., Estrada, S., Gu, X. F., Hui, J., Kosuga, M., Lin, S. P., Ngu, L. H., Shi, H. P., Tanaka, A., Thong, M. K., Wattanasirichaigoon, D., Wasant, P., McGill, J. 2012. Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region Molecular Genetics and Metabolism. (Tier 2, Impact Factor = 3.193) (ISI-Indexed)
  • Lee, D. S. C., Yoon, S. Y., Looi, L. M., Kang, P., Kang, I. N., Sivanandan, K., Ariffin, H., Thong, M. K., Chin, K. F., Taib, N. A. M., Yip, C. H., Teo, S. H. 2012. 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 Research. (Tier 1, Impact Factor = 5.245) (ISI-Indexed)
  • 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 Indexed Publication)

2011
  • 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-Indexed)
  • 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-Indexed)
  • Yoon, S. Y., Thong, M. K., Taib, N. A. M., Yip, C. H., Teo, S. H. 2011. Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study Familial Cancer. (Tier 3, Impact Factor = 2.139) (ISI-Indexed)
  • 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-Indexed)
  • 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-Indexed)

2010
  • 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-Indexed)
  • Thong, M. K., Boey, C. C. M., Sheng, J. S., Ushikai, M., Kobayashi, K. 2010. Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life Singapore Medical Journal (ISI-Indexed)
  • Kang, P., Mariapun, S., Phuah, S. Y., Lim, L. S., Liu, J. J., Yoon, S. Y., Thong, M. K., Taib, N. A. M., Yip, C. H., Teo, S. H., et al. 2010. Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families Breast Cancer Research and Treatment. (Tier 1, Impact Factor = 4.696) (ISI-Indexed)
  • Annuar, A. A., Wong, K. T., Ching, A. S., Thong, M. K., Wong, S. W., Alsiddiq, F., Goh, K. J., et al. 2010. Exercise induced cramps and myoglobinuria in dystrophinopathy - a report of three Malaysian patients Neurology Asia (ISI-Indexed)
  • 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-Indexed)
  • 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 Dec;33 Suppl 3:S159-62. doi: 10.1007/s10545-010-9056-z. (ISI/SCOPUS Indexed Publication)

2009
  • 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-Indexed)
  • 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-Indexed)
  • Fong, C. B., Thong, M. K., Sam, C. K., Noor, M. N. M., Ariffin, R. 2009. MECP2 mutations in Malaysian Rett syndrome patients Singapore Medical Journal (ISI-Indexed)
  • Yip, C. H., Taib, N. A., Choo, W. Y., Rampal, S., Thong, M. K., Teo, S. H. 2009. Clinical and Pathologic Differences Between BRCA1-, BRCA2-, and Non-BRCA-Associated Breast Cancers in a Multiracial Developing Country World Journal of Surgery. (Tier 1, Impact Factor = 2.641) (ISI-Indexed)

2008
  • Thong MK, Zabedah MY. 2008. Spectrum of Inherited Metabolic Disorders in Malaysia. Annals of Academy of Medicine, Singapore 37 (Suppl 3): 66-70 (ISI-Indexed)
  • Thirthagiri, E., Lee, S. Y., Kang, P., Lee, D. S., Toh, G. T., Selamat, S., Yoon, S. Y., Taib, N. A. M., Thong, M. K., Yip, C. H., & Teo, S. H. 2008. Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer Breast Cancer Research. (Tier 2, Impact Factor = 4.371) (ISI-Indexed)
  • 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 Indexed 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-Indexed)

2006
  • Ho, J. J., Thong, M. K., Nurani, N. K. 2006. 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 Journal of Obstetrics Gynaecology (ISI-Indexed)
  • 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-Indexed)
  • 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-Indexed)

2005
  • Thong, M. K., Bazlin, R. I. R., Wong, K. T. 2005. Diagnosis and management of Duchenne muscular dystrophy in a developing country over a 10-year period Developmental Medicine and Child Neurology (ISI-Indexed)
  • Thong, M. K., Ho, J. J., Khatijah, N. N. 2005. A population-based study of birth defects in Malaysia Annals of Human Biology (ISI-Indexed)
  • Thong, M. K., Tan, J., Tan, K. L., Yap, S. F. 2005. Characterisation of beta-globin gene mutations in malaysian children: A strategy for the control of beta-thalassaemia in a developing country Journal of Tropical Pediatrics (ISI-Indexed)
  • 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-Indexed)
  • 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-Indexed)
  • 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 Indexed 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-Indexed)
  • 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-Indexed)
  • Thong, M. K., Chan, L. G., Ting, H. S. 2005. Further delineation of Al-Gazali syndrome (multiple sketetal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family Clinical Dysmorphology (ISI/SCOPUS Indexed Publication)

2003
  • 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-Indexed)
  • Chan L, Gopinathan R, Thong MK. Mucopolysaccharidosis: airway risk to anaesthetists. Asean Journal of Anaesthesiology 2003; 4 (1): 52-4. (Non-ISI/Non-SCOPUS)

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. (SCOPUS-Indexed)
  • 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-Indexed)

2001
  • Tan, K. L., Tan, J., Wong, Y. C., Wee, Y. C., Thong, M. K., Yap, S. F. 2001. Combine-ARMS: A rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia Genetic Testing (ISI-Indexed)
  • 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-Indexed)

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-Indexed)

1999
  • 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-Indexed)
  • 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-Indexed)
  • Thong, M. K., Rudzki, Z., Hall, J., Yap, S. F., Tan, K. L., Tan, J. 1999. Screening for undetected beta-globin gene mutations using chemical cleavage of mismatch method in patients registered with the Thalassaemia Registry, University Hospital Kuala Lumpur Asia-Pacific Journal of Molecular Biology and Biotechnology (ISI-Indexed)
  • 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)

1998
  • Thong, M. K. 1998. Dengue shock syndrome and acute respiratory distress syndrome Lancet (ISI-Indexed)
  • Thong, M. K., Lim, C. T., Fatimah, H. 1998. Undescended testes: incidence in 1,002 consecutive male infants and outcome at 1 year of age Pediatric Surgery International (ISI-Indexed)
  • 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-Indexed)
  • Thong, M. K. 1998. Memorable patients - Down but not out British Medical Journal (ISI-Indexed)

1997
  • 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-Indexed)
  • 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 Indexed Publication)

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

1995
  • Lum, L. C. S., Thong, M. K., Cheah, Y. K., Lam, S. K. 1995. DENGUE-ASSOCIATED ADULT-RESPIRATORY-DISTRESS-SYNDROME Annals of Tropical Paediatrics (ISI-Indexed)
  • 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. (Non-ISI/Non-SCOPUS)
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)
Proceeding

2019
  • Thong MK (2019) Treatable inherited diseases revisited. Presented at the 13th Asia-Pacific Conference on Human Genetics (APCHG) Manila, Philippines 7-10th November 2019. 
  • Thong MK (2019) Achieving SDGs for Congenital Disorders in Asia: Opportunities and Challenges Presented at the 15th Congress of Asia Society of Pediatric Research (ASPR) Manado Indonesia 9-11 Sept 2019. 
  • Thong MK (2019) Genetics of thalassaemia and inherited conditions Presented at the Myanmar Health Research conference 7-10th January 2019, Department of Medial Research, Yangon Myanmar. 
  • Thong MK (2019) Genetic and genomic testing in children: clinical, laboratory and ethical issues. Presented at the 15th Asia Oceanian Congress of Child Neurology (AOCCN) and 41st Congress of MPA 19-22nd Sept 2019, Shangri-la hotel KL 
  • Thong MK (2019 April). Entrustable Professional Activities as an alternative assessment tool for entry into Malaysian Professional Paediatrics postgraduate training program. Presented at the International Learning Improvement And Teaching Enhancement Conference LiTEC 2019 25th April 2019 Pearl Hotel KL 
  • Thong MK. (2019 Aug). Ethical issues, genetic testing and screening in Paediatrics Presented as oral paper at the Paediatric Dentistry Conference (CRiPD) 2019 7-9th August 2019, Hospital UiTM, 

2018
  • Thong MK (July 2018) Basic genetics with reference to muscle disease. Presented at the Asia-Oceania Myopathy course (AOMC) 27-29th July 2018, Royale Chulan Hotel. Kuala Lumpur 
  • Thong MK (2018 Sept) Genetics of autism, Hereditary cardiomyopathhies, genetics of thalassaemia. Presented at the 2nd UM-CUHK Certificate Course in Clinical Genetics and Genomics” scheduled from 12–14 September 2018 held at the Faculty of Medicine, University of Malaya. Organised by University of Malaya and Chinese University of Hong Kong 
  • Thong MK (2018) Challenges in Interpretation of Genetic and Genomic Reports in the Clinic. Presented orally at the Asia Pacific Society of Human Genetics (APSHG) Autumn School Singapore 31 Oct – 2nd Nov 2018 Kent Vale NUS Singapore 
  • Thong MK (2018 Nov) Clinical utility and limitations of genetic and genomic testing.Presented orally at Medical Genetics Seminar Medical Genetics Society of Malaysia 31 Oct -1st Nov 2018 Prince Court Medial Centre, 

2017
  • Thong MK. (July 2017) Arthrogryposis; Hereditary cardiomyopathy and conduction defects; Pedigree construction, analysis and risk assessment and Hereditary and familial cancers. Presented at the First UM-CUHK Certificate Course in Clinical Genetics and Genomics 11th – 13th July 2017 in conjunction with Paediatric Research Week 2017. The CUBE Faculty of Medicine University of Malaya 

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-Indexed)
  • 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-Indexed)
  • 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-Indexed)
  • 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-Indexed)
  • 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-Indexed)
  • 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 Indexed Publication)

2014
  • 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)
  • 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)

2013
  • 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). (Non-ISI/Non-SCOPUS)
  • 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) (Non-ISI/Non-SCOPUS)

2012
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)

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 Indexed 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-Indexed)
  • 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-Indexed)

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-Indexed)
Monograph

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 (ISI/SCOPUS Indexed Publication)
Technical Report

2019
  • Thong MK. Azlina A-A. Todd L, Rao VM. White Paper: Rare Diseases in Malaysia. 2019 December. Published by Institute for Democracy and Economic Affairs. (IDEAS) 
  • Guidelines On Ethical Issues In The Provision Of Medical Genetics Services In Malaysia. (2019) Published by Medical Services Development Section, Medical Development Division, Ministry of Health Malaysia. MOH/P/PAK/335.17(GU) ISBN 978-967-0769-71-4. 

2018
  • Thong MK. Azlina A-A. National Policy on Rare Diseases. Living with Dignity: In Search of Solutions for Rare Diseases. 2018 August. Brief IDEAS No 10. Published by Institute for Democracy and Economic Affairs (IDEAS). 

2012
  • Guidelines for Treatment of Lysosomal Storage Diseases by Enzyme Replacement Therapy in Malaysia. (2012) Medical Development Division, Ministry of Health, Malaysia. MOH/P/PAK/216.11(GU) ISBN: 978-983-44999-9-0 

2010
  • Clincal Practice Guidelines: Management of Breast Cancers (2nd edition) MOH/P/PAK/212.10 (GU). Member Writing Group. Ministry of Health Malaysia nad Academy of Medicine of Malaysia. Nov 2010. 
Mass Media(Newspaper,Radio,Tv,Popular Magazine)

2020
  • Press statement Academy of Medicine of Malaysia on COVID-19 pandemic in Malaysia 
  • BFM radio interview live on 28th Feb 2020 on “Rare Disease Day” 
  • Press Statement by Academy of Medicine of Malaysia on COVID-19 pandemic in Malaysia 

2019
  • Press statement by College of Paediatrics Academy of Medicine of Malaysia and Malaysia Paediatric Association 
  • Publication of White Paper on Rare Diseases in Malaysia December 2019 by Institute for Democracy and Economic Affairs 
  • BERNAMA TV Live Affairs interview on rare diseases day 25th Feb 2019 “Challenges and realities of diagnosis of rare disease” 
  • Glucose-6-phosphate dehydrogenase deficiency 
  • Press article on high cost of treatment for rare diseases 
  • Press interview on genetic services for ovarian cancer 
  • Press interview 1st Genetic Counselling workshop in Malaysia with Deputy Health Minister 

2018
  • Opinion piece op-ed on uncertain funding by the PH government for rare diseases 
  • Astro Awani interview on the issue “Malaysia bina semula industry sains Malaysia melalui sector kesihatan” on the 26th August 2018 

2017
  • Radio Interview on Down syndrome on radio BFM on 6th April 2017. World Down Syndrome Day 21st March 2017 

2016
  • NST interview on sex education 
  • Osteogenesis imperfecta 

2014
  • Interview by The Star on the issue of “Congenital abnormalities the main killer of infants” published on the 12th December 2014. 

2012
  • Interview with Utusan Malaysia on "Penyakit Bawaan Genetik dan Sindrom Marfan" 4th October 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. 

2011
  • Doctor's viewpoint on rae diseases 

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


  • The Socialization of eating practices in children with Prader-Willi syndrome. Hubert-Curien Partnership (PHC-Hibiscus) Project, Co-Investigator, 2020 - 2022, International Funding
  • Ephrinb1(efnb1), Ephb6 (ephb6) And Epha2 (epha2) As Gene Candidates For Spina Bifida, Consultant, 2018 - 2019, Bantuan Khas Penyelidikan (BKP Special), (National)
  • Creating New Learning Space In The Workplace: Entrustable Professional Activities (epas) As A Tool Of Learning And Assessment For Entry Into A Malaysian Professional Paediatric Training Program, Principal Investigator(PI), 2018 - 2019, RU Geran - ADEC, (National)
  • Rare Disease Registry Program, Principal Investigator(PI), 2017 - 2021, International Funding, (National)
  • A Phase 3, Randomized, Double-Blind, Placebo-Controlled Efficacy And Safety Study Of Ataluren In Patients With Nonsense Mutation Duchenne Muscular Dystrophy And Open-Label Extension, Principal Investigator(PI), 2017 - 2022, International Funding, (National)
  • Mainstreaming Genetic Counselling for Genetic Testing of BRCA1 and BRCA2 in Ovarian Cancer Patients in Malaysia (MaGiC), Co-Investigator, 2016 - 2020, International Funding, (National)
  • Personalized Genomic Research: Congenital Malformations, Co-Investigator, 2016 - 2020, International Funding, (National)
  • Molecular characterisation of Beckwith-Wiedemann syndrome and Russell-Silver syndrome affecting normal growth in Malaysian children, Consultant, 2015 - 2017, Geran Penyelidikan Universiti Malaya (UMRG) - AFR (Frontier Science), (University)
  • Malaysian registry for children with tuberous sclerosis complex (TSC), Co-Investigator, 2013 - 2014, Novartis (M) Sdn Bhd, (University)
  • Metabolomic Analysis In Sick And Healthy Infants: A Novel Strategy In Personalized Medicine., Principal Investigator(PI), 2013 - 2016, High Impact Research - Ministry of Education (HIR-MOE) Cycle 3, (National)
  • Pulse Oximetry Screening for Critical Congenital Heart Defects in apparently well term newborns, Consultant, 2012 - 2013, Geran Penyelidikan Universiti Malaya (UMRG) - HTM (Wellness), (University)
  • Elucidation of The Mechanism and Rescue of the Human Neural Tube Defects Gene(s), Co-Investigator, 2012 - 2014, High Impact Research (HIR), (University)
  • Investigating EphA2 phosphorylation and signalling mechanism in adhesion and fusion of the spinal neural tube, Co-Investigator, 2011 - 2015, High Impact Research (HIR), (University)
  • 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), (University)
  • 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), (University)
  • 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), 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 DYSTROPHIC AMONG MALAYSIAN PATIENTS, Principal Investigator(PI), 2008 - 2009, RU Geran, (National)
  • Problem based learning
  • Inherited metabolic disorders
  • Genetic counselling
  • Confirmation of myotonic dystrophy among Malaysian patients., Principal Investigator(PI), 2008 - 2009, Short Term Research Fund (Vote F)(PJP), (National)
  • 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, (National)
  • POLYMERASE CHAIN REACTION (PCR) ANALYSIS OF MALAYSIAN PATIENTS WITH MYOTONIC DYSTROPHY., Principal Investigator(PI), 2007 - 2008, RU Geran, (National)
  • Detection of Familial Hypercholesterolemia gene mutation amongst the Malaysian population, Co-Investigator, 2006 - 2012, MOSTI, (National)
  • Epidemiology and prevention of major birth defects in the Kinta district, Perak, Malaysia, Principal Investigator(PI), 2002 - 2005, IRPA, (National)
  • Birth Defects and Dysmorphology
  • Adult-onset Genetics

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


  • Rare Diseases in Malaysia: Development of National Policy, Clinical Consultant, 2018-2020, Institute of Democracy and Economic Affairs (IDEAS)
  • Genetic Counselling for Familial Breast Cancer, Clinical Consultant, 2013-2018, Cancer Research Malaysia
  • University of Malaya Specialist Centre, Clinical Consultant, 2000-2017, Universiti Malaya Specialist Centre Sdn Bhd

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


  • Anugerah Cemerlang Universiti Malaya (2019) - Penyelidik Cemerlang Ulung (Sains), University of Malaya, 2019, (University)
  • Winner of The Anugerah Khas Yb Menteri Pendidikan Malaysia: Rekabentuk Kurikulum Dan Penyampaian Inovatif (Akri) 2019 (Kategori Pentaksiran Alternatif) Hotel Everly Putrajaya 11th September 2019 Organised by The Ministry of Education Malaysia. , Ministry of Education Malaysia, 2019, (National)
  • Winner of The Gold Award for The Presentation “The Use of Entrustable Professional Activities (Epas) as a Tool of Learning and Assessment for Entry Into a Malaysian Professional Paediatrics Postgraduate Training Program” Presented During The International Learning Improvement and Teaching Enhancement Conference (Litec) 2019, Pearl Hotel Kuala Lumpur, 24-25th April 2019 , University of Malaya, 2019, (National)
  • Fellow of The Academy of Sciences Malaysia, Academy of Sciences Malaysia, 2017, (National)
  • Jeans for Genes Day 2016: Creating The Longest Jeans Dna Double Helix Chain Formation Measuring 531 Metres, Malaysia Book of Records, 2016, (National)
  • Khidmat Setia 20 Award, 2015
  • Certificate of Appreciation, National Hospital of Pediatrics, Vietnam, 2015, (International)
  • Certificate of Appreciation, International Society of Neonatal Screening, 2015, (International)
  • Best Free Paper Oral Presentation 2014, Perinatal Society of Malaysia, 2014, (National)
  • Fellow of The Academy of Medicine, Singapore, Academy of Medicine, Singapore, 2013, (International)
  • Excellence Service Award, University Malaya, 2011, (University)
  • Aspr Fellowship and Travel Award 2008, Asia Society for Pediatric Research and Pediatric Academic Societies Usa, 2008, (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)
  • Excellence Service Award, University Malaya, 2006, (University)
  • 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)
  • The Australia-Malaysia Fellowship for Research Excellence 2006, The Australia-Malaysia Institute, Canberra, Australia, 2006, (International)
  • Certificate of Excellent Service, University Malaya, 2003, (University)
  • The Fulbright Scholar Award, The Fulbright Commission, Us Department of State,, 2003, (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)
  • 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)

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


PLEANARY/KEYNOTE SPEAKER
  • New Genetics and its Implications for Paediatric Practice., The 32nd Malaysian Paediatric Association annual congress , 2010-10-15 to 2010-10-17, Malaysian Paediatric Association, (National)
  • Genes, Medicine and Society: From Paediatrics to Genetic Counselling and Beyond, Syarahan Perdana Universiti Malaya, 2011-07-15 to 2011-07-15, University of Malaya, (University)
  • Personalized and precision medicine: are we there yet?, 11th Asia-Pacific Conference on Human Genetics, 2015-09-16 to 2015-09-18, (International)
  • Genomics in Perinatology., 23rd Regional Congress of the Perinatal Society of Malaysia, 2016-12-01 to 2016-12-03, Perinatal Society of Malaysia, (International)
INVITED SPEAKER
  • Spectrum of Metabolic Disorders in Malaysia., 6th Asia Pacific Regional Meeting of the International Society for Newborn Screening , 2007-03-01 to 2007-03-03, International Society for Neonatal Screening, (International)
  • Thalassaemia Screening Programme: The Malaysian Experience, 4th International Conference on Birth Defects & Disabilities (ICBDD), , 2009-03-01 to 2009-03-03, International Conference on Birth Defects & Disabilities (ICBDD), , (International)
  • The Paediatrician's Role in Prevention of Genetic Disorders., The 13th Asian Pacific Congress of Pediatrics , 2009-03-01 to 2009-03-03, Asia Pacific Pediatric Association, (International)
  • Genetic Screening: An Overview, The 5th Malaysian Conference on Healthy Ageing , 2010-05-27 to 2010-05-29, The Malaysian Healthy Ageing Society and UPM , (National)
  • Citrin Deficiency in Malaysian Children: Clinical & Laboratory Presentation and Outcome., The First Asian Congress for Inherited Metabolic Diseases (ACIMD). , 2010-07-01 to 2010-07-09, Asian Society for Inherited Metabolic Diseases, (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,, 2010-10-20 to 2010-10-23, Asian Society for Inherited Metabolic Diseases, (International)
  • Genetic Counselling in the Multi-Ethnic Asian Populations: Pitfalls and Challenges., The 9th Asia-Pacific Conference on Human Genetics. 30th Nov -3rd Dec 2010 , 2010-11-30 to 2010-12-03, Asia-Pacific Society of Human Genetics, (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, 2010-11-30 to 2010-12-03, Asia Pacific Society of Human Genetics, (International)
  • 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., 2012-05-31 to 2012-05-31, 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., 2012-06-06 to 2012-06-09, National Early Childhood Intervention Council (NECIC), (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, 2012-06-23 to 2012-06-24, College of Paediatrics Academy of Medicine of Malaysia, (National)
  • 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., 2012-09-08 to 2012-09-12, Asia Pacific Pediatric Association , (International)
  • 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., 2012-11-20 to 2012-11-23, OMFS and Neurosurgery, University of Malaya, (University)
  • Genetics of Congenital Heart Diseases, Invited Speaker: Genetics of Congenital Heart Diseases. Postgraduate Cardiology course, Dewan Jemerlang, University of Malaya, 20th November 2012, 2012-11-20 to  , Department of Paediatrics, (National)
  • Effective & On Time Treatment Case Study Impact of genetic counselling towards patient care., The Second Malaysia Conference on Rare Disorders, 2013-10-25 to 2013-10-26, Malaysia Rare Disorders Society, Malaysian Lysosomal Diseases Association, Malaysia Metabolic Society, (National)
  • Genetic counselling and genetic testing in the genomics era. , The 8th International Conference on Genomics (ICG) , 2013-10-30 to 2013-11-01, Beijing Genome Institute, (International)
  • 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) , 2013-11-10 to 2013-11-13, 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) , 2013-12-03 to 2013-12-05, Genetics Society of Malaysia, (National)
  • Orphan Diseases: Integrated Approach to Diagnosis and Care, 15th ASEAN Pediatric Federation COngress, 2014-09-17 to 2014-09-20, Malaysian Paediatric Association, (International)
  • Personalized Medicine in Clinical Practice: Delivering on the Promise., Human Genome Meeting 2015 (HGM2015) , 2015-03-14 to 2015-03-17, Human Genome Organisation (HUGO), (International)
  • Country Report on Inborn Errors of Metabolism Malaysia, The 4th Asian Congress for Inherited Metabolic Diseases (ACIMD2015). March 19-22, 2015 , 2015-03-19 to 2015-03-22, Taiwan Genetics SOciety, (International)
  • Genetic counselling and ethical issues, Clinical Management of thalassaemia 6th 7th August 2015 , 2015-08-06 to 2015-08-07, UKM Molecular Biology Institute (UMBI) and Ministry of Health Malaysia, (National)
  • Congenital Malformations: Are We Making Our Children Suffer? , Kuala Lumpur International Neonatology Conference, 2015-11-12 to 2015-11-14, University of Malaya; Perinatal Society of Malaysia; College of Paediatrics- Academy of Medicine of Malaysia, (International)
  • 1. Medical genetics services in Malaysia: Challenges and the way forward 2. Problem-based learning in genetics education in a developing country, International Congress of Human Genetics (ICHG) 2016 Kyoto Japan, 2016-12-01 to 2016-12-03, International Federation of Human Genetics, (International)
  • Rare DIseases in Malaysia, 1st Philippine Rare Diseases Symposium 22nd February 2017, Manila Philippines. Organised by the Department of Health, Philippine and UP National Institutes of Health., 2017-02-22 to 2017-02-22, Department of Health, Philippine and UP National Institutes of Health., (International)
  • Genetics in Autism, . Developmental Paediatrics Course 2017: Autism and Learning Issues. 5-6th May 2017. , 2017-05-05 to 2017-05-06, Department of Paediatrics UM, (National)
  • Genetic counselling and prenatal diagnosis., Course on Clinical Management of Thalassaemia. 18th 19th May 2017. , 2017-05-18 to 2017-05-19, Organized by UKM Medical Molecular Biology Institute (UMBI)., (International)
  • Genetic Counselling in Asian Communities: the Art and Science, The 1st Baylor College of Medicine-Chinese University of Hong Kong Joint Symposium in Clinical Genetics and Birth Defects. 20th 21st May 2017. Hong Kong, China., 2017-05-20 to 2017-05-21, Baylor College of Medicine USA and Chinese University of Hong Kong, (International)
  • Congenital skeletal abnormalities and respiratory insufficiency, Malaysian Thoracic Society Annual Congress 2017. 20 23rd July 2017. , 2017-07-20 to 2017-07-23, Malaysian Thoracic Society, (National)
  • Birth defects in developing countries: Challenges and opportunities, 12th Asia-Pacific Conference on Human Genetics, 2017-11-08 to 2017-11-10, Asia-Pacific Society of Human Genetics, (International)
  • Challenges in Interpretation of Genetic and Genomic Reports in the Clinic, Asia Pacific Society of Human Genetics (APSHG) Autumn School Singapore, 2018-10-31 to 2018-11-02, Asia Pacific Society of Human Genetics, (International)
  • Genetics of thalassaemia and inherited conditions, Myanmar Health Research conference, 2019-01-07 to 2019-01-08, Department of Medical Research Myanmar, (International)
  • Ethical issues, genetic testing and screening in Paediatrics, Paediatric Dentistry Conference (CRiPD) 2019, 2019-08-07 to 2019-08-08, UiTM, (National)
  • Achieving SDGs for Congenital Disorders in Asia: Opportunities and Challenges, The 15th Congress of Asia Society of Pediatric Research (ASPR), 2019-09-09 to 2019-09-10, Asia Society of Pediatric Research and Indonesian Pediatric Society, (International)
  • Hereditary cardiomyopathy, Genetics of thalassaemia, Autism, 3rd UM-Chinese University of Hong Kong Certificate Course in Clinical Genetics and Genomics, 2019-09-11 to 2019-09-13, Universiti Malaya and Chinese University of Hong Kong, (International)
  • Genetic and genomic testing in children: clinical, laboratory and ethical issues., 15th Asia Oceanian Congress of Child Neurology (AOCCN) and 41st Congress of Malaysian Paediatric Association, 2019-09-19 to 2019-09-20, Malaysia Paediatric Association and AOCCN, (National)
  • Overview of Paediatric Genetics, Academy of Medicine of Malaysia Genomics workshop, 2019-10-14 to 2019-10-15, College of Paediatrics AMM, (National)
  • Treatable inherited diseases revisited, The 13th Asia-Pacific Conference on Human Genetics (APCHG), 2019-11-07 to 2019-11-09, Asia-Pacific Society of Human Genetics, (International)
EVENT ORGANISER
  • Rare Disorders and Basic Genetics 101., The First Malaysia Conference on Rare Disorders and Medical Genetics Conference 2011, 9-10th June 2011, , 2011-06-09 to 2011-06-10, Malaysian Rare Disorders Society and Medical Genetics Society of Malaysia, (National)
  • Citrin Deficiency: Reflections on a Pan-Ethnic Disorder and the Way Forward. , 10th Asia-Pacific Conference on Human Genetics, 2012-12-05 to 2012-12-08, Asia-Pacific Society of Human Genetics, (International)
  • Arthrogryposis; Hereditary cardiomyopathy and conduction defects; Pedigree construction, analysis and risk assessment and Hereditary and familial cancers. , 1 UM-CUHK Certificate Course in Clinical Genetics and Genomics 11th 13th July 2017 in conjunction with Paediatric Research Week 2017., 2017-07-11 to 2017-07-13, Faculty of Medicine UM, (International)
ORAL
  • Breast-feeding is possible even if mother and baby have phenylketonuria., ICIEM 2000, 2000-09-03 to 2000-09-06, SSIEM, (International)
  • Preimplantation Genetic Diagnosis and Controversies, Federation of Asian and Oceanian Perinatal Societies conference, 2004-03-01 to 2004-03-04, Federation of Asian and Oceanian Perinatal Societies, (International)
  • Profile of genetic counselling service in the Genetic Clinic, University of Malaya Medical Centre., International Conference on Health Sciences in conjunction with the University of Malaya s Centennial Celebrations, 2005-03-01 to 2005-03-04, University of Malaya, (International)
  • Birth Defects Register: Uses and Limitations., Joint Symposium on Medical Genetics, 2006-03-01 to 2006-03-03, APSHG, (International)
  • Wireless Intelligent Incontinence Management System using Smart Diapers, ECTI-CON 2008, 2008-03-01 to 2008-03-05, ECT-CON, (National)
  • Congenital Anomalies 2007, National Conference for Clinical Research 2009, 2009-03-01 to 2009-03-03, Ministry of Health Malaysia, (National)
  • BRCA1 & BRCA2 mutations in Malaysian breast cancer patients., 10th Asia-Pacific Conference on Human Genetics, 2012-12-05 to 2012-12-08, Asia-Pacific Society of Human Genetics, (International)
  • Treatment-focused genetic testing (TFGT) is it too soon for Malaysia?, 11th Asia-Pacific Conference on Human Genetics, 2015-09-16 to 2015-09-18, (International)
  • Acute Metabolic Crisis., Academy of Medicine 50th Year Golden Jubilee celebration in conjunction with the 3rd AMM-AMS-HKAM Tripartitie Congress, 2016-12-01 to 2016-12-03, Academy of Medicine Malaysia, (International)
  • Entrustable Professional Activities as an alternative assessment tool for entry into Malaysian Professional Paediatrics postgraduate training program, International Learning Improvement And Teaching Enhancement Conference LiTEC 2019, 2019-04-25 to 2019-04-25, ADeC , (International)
POSTER
  • The Molecular Diagnosis of Myotonic Dystrophy in Malaysia., The 11th International Child Neurology Congress (ICNC 2010), 2010-07-01 to  , International Child Neurology Congress, (International)
  • Genetic mutations in sarcoglycanopathies in a Malaysian population., 15th International Congress of the World Muscle Society, 2010-10-12 to 2010-10-16, (International)
  • Genetic mutations in dysferlinopathy in a Malaysian population, 15th International Congress of the World Muscle Society , 2010-10-12 to 2010-10-16, (International)
  • Genetic Analyses of Myotonic Dystrophy Type 1 in Malaysia., 10th Asia-Pacific Conference on Human Genetics, 2012-12-05 to 2012-12-08, 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, 2012-12-05 to 2012-12-08, 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, 2012-12-05 to 2012-12-08, Asia-Pacific Society of Human Genetics, (International)
  • 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), 2013-11-08 to 2013-11-10, UKM UMBI, (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,, 2013-11-19 to 2013-11-20, University of Malaya, (University)
  • Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type one patients, 64th American Society of Human Genetics Annual Meeting, 2014-10-18 to 2014-10-22, American Society of Human Genetics, (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, 2014-10-18 to 2014-10-22, American Society of Human Genetics, (International)
  • Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type patients., 64th American Society of Human Genetics annual scientific meeting, 2014-10-18 to 2015-10-21, 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, 2014-10-18 to 2014-10-21, (International)
  • L-2-Hydroxyglutaric aciduria: a case report., American Association of Clinical Chemistry 2015 Annual Meeting, 2015-07-16 to 2015-07-18, American Association of Clinical Chemistry, (International)
  • Berardinelli-Seip congenital lipodystrophy and its diagnostic implications., 11th Asia-Pacific Conference on Human Genetics, 2015-09-16 to 2015-12-18, (International)
  • Comparative metabolomic analyses in term and preterm Malaysian infants., 11th Asia-Pacific Conference on Human Genetics, 2015-09-16 to 2015-09-18, (International)
  • Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance., 11th Asia-Pacific Conference on Human Genetics, 2015-09-16 to 2015-09-18, (International)
  • First day urine of discordant monozygotic twin reflected fetal metabolic programming in metabolomics study., Annual Meeting of the Amarican Society of Human Genetics 2016, 2016-12-01 to 2016-12-03, American Society of Human Genetics, (International)
PRESENTER
  • Thalassaemia, hereditary cardiomyopathy, syndrome, First UM-CUHK Certificate Course in Clinical Genetics and Genomics in conjunction with Paediatric Research Week 2017., 2017-07-11 to 2017-07-13, UM and CUHK, (International)
  • Hereditary cardiomyopathy and arrythmia, 2nd UM-CUHK Certificate Course in Clinical Genetics and Genomics, 2018-09-12 to 2018-09-14, UM-CUHK, (National)
  • Clinical utility and limitations of genetic and genomic testing., Medical Genetics Seminar Medical Genetics Society of Malaysia, 2018-10-31 to 2018-11-01, Medical Genetics Society of Malaysia, (National)

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


  • Memorandum of Agreement, University of Malaya and Institute for Democracy and Economic Affairs (IDEAS), 2018, 24, (National)
  • Event Collaboration Agreement to co-organise "Certificate Course on Clinical Genetics and Genomics" between Universiti Malaya and Chinese University of Hong Kong, Chinese University of Hong Kong and University of Malaya, 2017, 1, (International)
  • Research Collaboration "Exome sequencing and analysis on patients with undiagnosed diseases and their parents", Keio University Japan, 2017, 24, (International)
  • 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).


  • The inaugural First Genetic Counselling Workshop in Malaysia, University of Malaya Medical Centre, Genetic Counselling Society of Malaysia, Advisor, 2019-2021, (National)
  • Policy development on Rare Diseases in Malaysia, University of Malaya and Institute for Democracy and Economic Affairs (IDEAS), Project Leader, 2018-2019, (National)
  • Chairman, Organizing Committee, 1st UM-CUHK Certificate Course in Clinical Genetics and Genomics, University of Malaya and Chinese University of Hong Kong, Chairman, 2017-2017, (International)
  • International Society of Neonatal Screening - Asia Pacific Regional Meeting, International Society of Neonatal Screening, Universiti Sains Malaysia, Chairman, 2015-2015, (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)
  • Chairman, Organising Committee, 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics, Chairman, 2010-2012, (International)

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


  • Appointment to the Selection Panel of the Dr Ranjeet Bhagwan Singh Research award grant 2020 by the Academy of Science Malaysia on the 24th Feb 2020, Project ,  (2020 - 2020)
  • Ahli Panel Penilai Skim Geran Penyelidikan Fundamental (FRGS) untuk Fasa 1/2019 Peringkat Institut Pengurusan dan Pemantauan Penyelidikan (IPPP), Project ,  (2019 - 2019)
  • External Clinical Examiner in Paediatrics, Medical Doctor Programme Third Professional Examination, Universiti Putra Malaysia 1st – 4th July 2019, Project ,  (2019 - 2019)
  • Reviewer for Journal of Paediatrics and Child Health, Article In Journal ,  (2019 - 2020)
  • Appointment to the Selection Panel of the Top Research Scientist Malaysia (TRSM) 2019 by the Academy of Science Malaysia 23 Oct 2019, Project ,  (2019 - 2019)
  • Appointment to Academy of Science Malaysia MAKNA Cancer Research award 2018 selection committee 19 Nov 2019, Project ,  (2019 - 2019)
  • Reviewer of journal article in PLOS One, Article In Journal ,  (2018 - 2019)
  • Reviewer for the American Journal of Medical Genetics, Article In Journal ,  (2018 - 2019)
  • External Clinical Examiner in Paediatrics, End of Rotation 4, Perdana University Royal College of Surgeon in Ireland (PU_RCSI) 4th April 2018 Seremban Hospital, Article In Journal ,  (2018)
  • External Clinical Examiner in Paediatrics, Medical Doctor Programme Third Professional Examination, Universiti Putra Malaysia 17th – 20th July 2017, Professional Medical Examination ,  (2017 - 2017)
  • External Examiner, Doctor of Medicine thesis: The Clinical Spectrum and Molecular Genetics of Congenital Imprinting Disorders in Hong Kong. University of Hong Kong 15th February 2017., External Examiner For University Of Hong Kong ,  (2017 - 2017)
  • 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)
  • 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)
  • 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, Frontiers of Pediatrics, Article In Journal ,  (2015 - 2020)
  • 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)
  • External Examiner Paediatric Undergraduate Modular Examination 31st October 2014 and supplementary examination 18th November 2014 Penang Medical College, Penang., Interview By Press ,  (2014)
  • Associate Editor, Applied and Translational Genomics journal, Article In Journal ,  (2014)
  • Reviewer for Annals of the Academy of Medicine, Singapore - an ISI-cited journal, Article In Journal ,  (2014)
  • Reviewer for European Journal of Pediatrics - 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., 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 Frontiers in Pediatrics: Genetics, Article In Journal ,  (2014)
  • Reviewer for Neurology Asia - ISI cited journal, Article In Journal ,  (2014)
  • Reviewer manuscript Annals of Academy of Medicine Singapore, Article In Journal ,  (2013 - 2013)
  • Invitation to be Associate Editor of the journal "Frontiers in Pediatrics and Genetics", Article In Journal ,  (2013 - 2014)
  • Reviewer for Neurology Asia, Article In Journal ,  (2013 - 2013)
  • 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)
  • 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)
  • Journal of ASEAN Federation of Endocrine Societies 2012, Article In Journal ,  (2012 - 2012)
  • Reviewer for journal Gene, Article In Journal ,  (2012 - 2012)
  • Editorial Board member, Journal of Pediatric and Neonatal Individualized Medicine, Article In Journal ,  (2012 - 2012)

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


  • Appointment by the Faculty of Medicine UM to be a member of the Seminar Proposal Defence for postgradautes from 2020 – 2022, (University), 01/01/2020 until 31/12/2022
  • Appointment by the Malaysian Medical Council (MMC) to be a member of the Specialty Education Subcommittee in General Paediatrics 2020-2022., (Government), 01/01/2020 until 31/12/2022
  • Radio interview on BFM station on the 9th May 2019 on the topic of G-6-PD deficiency, (National), 09/05/2019 until 09/05/2019
  • Dilantik oleh Kementerian Kesihatan Malaysia sebagai ahli Jawatankuasa Penyakit Jarang Jumpa Kebangsaan, (National), 01/05/2019 until 30/04/2021
  • Invited to be a panelist for television live interview on BERNAMA TODAY on the 25th Feb 2019 at 12.40pm on the topic: Rare Diseases: Challenges and Realities, (National), 25/02/2019 until 25/02/2019
  • Appointment by Academy of Sciences Malaysia to the 2019 Selection Panel for Top Research Scientists Malaysia (TRSM), (National), 01/01/2019 until 31/12/2019
  • Appointment as a member by the Academy of Sciences Malaysia to the Task Force on the Precision Medicine Initiative Malaysia, (National), 01/09/2018 until 31/03/2020
  • Co-Chairman, Organizing Committee, Kuala Lumpur International Neonatology Conference 2017, (International), 23/11/2017 until 25/11/2017
  • International Advisory Board member, 12th Asia-Pacific Conference on Human Genetics Bangkok Thailand 2017, (International), 08/11/2017 until 10/11/2017
  • Advisory Committee member, 2nd Genetic Counseling Workshop, Bangkok Thailand, (International), 08/11/2017 until 08/11/2017
  • Co-Organizer, Congress Workshop on Clinical Ethics and Ethics Consultation, Asian Congress on Paediatric Nephrology and 39th Malaysian Paediatrics Association Annual Congress, (International), 05/10/2017 until 07/10/2017
  • President College of Paediatrics, Academy of Medicine of Malaysia, (National), 30/06/2017 until 01/07/2018
  • Appointed member, Board of Trustees, Rare Disease Alliance Foundation Malaysia, (National), 31/05/2017 until 01/06/2020
  • Invitation to speak to UM undergraduate students for the GENETICS AND MOLECULAR BIOLOGY SEMINAR SERIES 2016/2017 organized by the UM Genetics Club 2017. , (University), 12/05/2017 until 12/05/2017
  • Interview by radio station BFM 89.9 Health and Living on the topic "World Down syndrome Day" , (National), 06/04/2017 until 06/04/2017
  • Co-organizer. Genetic Medicine Unit, Universiti Malaya Medical Centre with Faculty of Medicine UM. Jeans for Genes Day 25th Sept 2016 in conjunction with 111th Anniversary Universiti Malaya celebration to raise funds and awareness on rare diseases in Malaysia. Created a new Malaysia Book of Records for creating the longest jeans DNA double helix chain formation measuring 531 meters at Universiti Malaya. , (National), 25/09/2016 until 25/09/2016
  • Reviewer for the journal BMC Pediatrics, (International), 24/08/2016 until 24/08/2016
  • Reviewer for the Malaysian Journal of Pathology, (International), 07/08/2016 until 07/08/2016
  • Reviewer for the journal "Annals of the Academy of Medicine, SIngapore", (International), 07/01/2016 until 07/01/2016
  • Interview by The Star newspaper on the disease "Osteogenesis Imperfecta" 3rd Jan 2016, (National), 03/01/2016 until 03/01/2016
  • Ahli Jawatankuasa Kerja Registri Talasemia Program Kawalan dan Pencegahan Talasemia Kebangsaan, (Country), 01/01/2016 until 01/01/2019
  • Associate Editor, Frontiers in Genetics, (International), 01/01/2016 until 31/12/2017
  • Interview by media Harian Metro on "Rare Disease", (National), 27/07/2015 until 27/07/2015
  • Executive committee member, Genetics Society of Malaysia, (National), 19/03/2015 until 30/12/2017
  • Member, Executive Board of the International Federation of Human Genetics Societies , (International), 01/01/2015 until 31/12/2017
  • Interview by national newspaper "The Star" on 'Congenital abnormalities the main killer of infants', (National), 12/12/2014 until 12/12/2014
  • Interviu oleh media Utusan Malaysia berkenaan "Bantu kesan kanser: ujian genetik awal boleh bantu selamatkan individu yang terlibat", (National), 25/11/2014 until 25/11/2014
  • Vice President, Medical Genetics Society of Malaysia, (National), 27/06/2014 until 01/10/2018
  • President, Asia-Pacific Society of Human Genetics, (International), 10/12/2012 until 18/09/2015
  • Appointed Member, National Credentialling Committee for General Paediatrics and Clinical Genetics, (National), 04/01/2010 until 31/12/2015
  • Appointed member, National Committee for Enzyme Replacement Therapy, (National), 01/01/2010 until 31/12/2012
  • Advisor to Malaysian Rare Disorders Society, (National), 01/01/2007 until 31/12/2018

SUPERVISION


POST GRADUATE STUDENT
(Name of Degree), (Name of Candidates), (Title of Thesis), (Academic Session)

Completed
  • Master Degree, Dr Vida Jawin, Screening for critical congenital heart diseases in newborns, 2010/2011
  • Master Degree, Dr Foo Hee Wei, Immune thrombocytopenic purpura, 2009/2010
  • Master Degree, Dr Ainur Fadzlina Bt Ahmad Fuad, Down syndrome, 2008/2009
  • Master Degree, Chen Bee Chin, Biochemical profile of disorders of purine and pyrimidine disorders in Malaysian children, 2008/2009
  • Master Degree, Dr Ng Ruey Terng, A Study of Children With Developmental Delay and Mental Retardation at UMMC Genetics Clinic, 2006/2007
  • Master Degree, Dr Revathi A/p Rajagopal, Rickets of Prematurity, 2006/2007
  • Master 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
  • Master Degree, Fong Cheng Boon, Denaturing High-Performance Liquid Chromatography Of MECP2 Gene In Malaysian Patients With Rett Syndrome., 2004/2005
  • Master Degree, Dr Mehala Baskaran, Neonatal speticaemia, 2000/2001
  • Master Degree, Wong Voon Fui, Paediatric Pedigree System
  • Master Degree, Tin Yeo Gaik Ling, Software development for a Paediatric Drugs Prescribing System
  • Master Degree, Nam Hui Yin, Evaluation of HER2 amplification and over-expression (fluorescent in situ hybridisation) in recurrent and metastatic breast cancer among Malaysian patients

Ongoing
  • Master Degree, Dr Hanisah Bt Ishak, TBC, 2019/2020
  • Master Degree, Dr Amirah Bt Ismail, TBC, 2018/2019
  • Master Degree, Dr Anita Vallimalar Suppiah, Palliative care, 2018/2019
  • Master Degree, Thurga A/p Krishnan, Study Of Uniparental Disomy (UPD) And Genomic Imprinting Among Patients With Beckwith-Wiedemann Syndrome And Russell-Silver Syndrome In Malaysia, 2016/2017
  • Master Degree, Dr Anusha Palakrishnan, Marfan syndrome in Malaysian children: Clinical features and outcome of medical therapy, 2016/2017
  • Doctoral Degree (phd), Renuga Devi A/p Muthukanoo, Targeted and Untargeted Metabolomics Analysis in Sick and Healty Neonates: A Novel Strategy In Personalised Medicine, 2016/2017
  • Master Degree, Dr Khoo Wee Vien, Pending, 2015/2016
  • Master Degree, Dr Zuraini Bt Sulaiman, Pending, 2014/2015
  • Master Degree, Dr Nurul Azween, Pending, 2012/2013

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


FIRST DEGREE
  • ETHICAL PRACTICES IN BIOMEDICAL SCIENCE, 2019/2020(1), 38, 3
  • Stage 2, 2019/2020, 160, 2
  • Stage 3.1, 2019/2020, 36, 184
  • Stage 1, 2019/2020, 140, 4
  • MBBS, 2019/2020(1), 24, 54
  • ETHICS IN BIOMEDICINE, 2016/2017, 28, 3
  • Stage 1, 2013/2014, 128, 3
  • Phase 2, 2012/2013, 40, 4
  • APPLICATIONS AND ADVANCES IN MOLECULAR BIOLOGY, 2011/2012, 30, 3
  • Phase 3B, 2008/2009, 190, 130
DIPLOMA (IF APPLICABLE)
  • Graduate Diploma in Genetic Counselling, 2012/2013, 1, 34