Curriculum Vitae

PROF. DR. THONG MEOW KEONG

Honorary Professor
  • Department of Paediatrics
    Faculty of Medicine
  • thongmk
  • 03-79492065

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 and helped established Clinical Genetics as a subspecialty in the National Specialist Register 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.  

Professor Thong 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. He also won three 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 as well as University of Malaya's Excellence Award for 'Distinguished Research in Science'. He was also the recipient for the prestigious American Society of Human Genetics Advocacy Award 2022.

Professor Thong has published over 110 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 and 6 keynote lectures. 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 as well as rare diseases. 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 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 was also appointed as the founding Head, Genetic Medicine unit of the University Malaya Medial Centre. He was elected as a Fellow of Academy of Medicine of Malaysia, Academy of Medicine Singapore and Academy of Sciences Malaysia. He was elected a steering committee member of the Global Genomic Medicine Collaborative (G2MC) in 2022.

Professor Thong 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 organized the 10th Asia-Pacific Conference on Human Genetics and is the founding National Advisor to the Malaysian Rare Disorders Society since 2004 and a Trustee of the Rare Disease Alliance Foundation of Malaysia. He helped established the Genetic Counselling Society of Malaysia. He organised the first UM-Chinese University of Hong Kong Certificate Course in Clinical Genetics and Genomics at the University of Malaya. His current interests include delineation of rare disorders, preventive and curative strategies for genetic disorders, genetic counselling, inborn errors of metabolism. medical education 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. 

AREAS OF EXPERTISE


  • 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

ACADEMIC QUALIFICATION


  • MD(UM)(2004), (Genetik Molekul)
    Universiti Malaya (UM)
  • FHGSA(Clinical Genetics)(2000), (Genetic Clinical)
    Women's & Children's Hospital,North Adelaide,Australia
  • MPaeds(UM)1995, (PAEDIATRICS)
    Universiti Malaya (UM)
  • MBBS(UM)1988, (Medicine and Surgery)
    Universiti Malaya (UM)

ADMINISTRATIVE DUTIES


  • Head of Unit
    12 Aug 2022 - 11 Aug 2024 (University Malaya)
  • Committee Members
    01 Jan 2022 - 31 Dec 2023 (University Malaya)
  • Head of Unit
    01 Jan 2022 - 31 Dec 2022 (Department of Paediatrics, Faculty of Medicine)
  • Member of Credentialing and Privileging Committee, University Malaya Medical Centre
    01 Jan 2020 - 31 Dec 2022 (Department of Paediatrics, Faculty of Medicine)
  • Perlantikan sebagai ahli tetap dalam Seminar Proposal Defence bagi Calon Ijazah Tinggi
    01 Jan 2020 - 31 Dec 2022 (Department of Paediatrics, Faculty of Medicine)
  • Head of Unit
    12 Aug 2020 - 11 Aug 2022 (University Malaya)
  • Latikan sebagai Ahli Jawatankuasa Ijazah Lanjutan Perubatan Pediatrik
    01 Jan 2020 - 31 Dec 2020 (National)
  • Head of Unit
    10 Aug 2019 - 11 Aug 2020 (University Malaya)
  • Ahli Jawatankuasa Penulisan Projek Kurikulum Nasional Sarjana Perubatan Klinikal
    01 Sep 2016 - 01 Jun 2020 (National)
  • Ahli Jawatankuasa Ijazah Lanjutan Perubatan Pediatrik
    01 Jan 2019 - 31 Dec 2019 (National)
  • Ahli Panel Penilai Geran Peruntukan Penyelidikan Pascasiswazah (PPP) Fakulti Perubatan Universiti Malaya
    01 Oct 2015 - 30 Sep 2018 (Department of Paediatrics, Faculty of Medicine)
  • Ahli JAWATANKUASA PROGRAM LATIHAN SUBKEPAKARAN atau FELLOWSHIP UM
    01 Sep 2016 - 01 Sep 2018 (University Malaya)
  • Jawatankuasa Jaminan Kualiti Akademik Fakulti Perubatan UM
    01 May 2016 - 18 Apr 2018 (Dean Office, Faculty of Medicine)
  • Specialty Committee of the National Credentialing Committee for Paediatrics and Clinical Genetics
    04 Jan 2016 - 04 Jan 2018 (National)
  • Steering committee member, National Postgraduate Medical Curriculum Writing committee, Faculty of Medicine
    10 Sep 2014 - 31 Dec 2017 (Department of Paediatrics, Faculty of Medicine)
  • Ahli Jawatankuasa Penilaian Skim Geran Penyelidikan Fundamental (FRGS) Universiti Malaya
    18 Apr 2014 - 30 Dec 2016 (University Malaya)
  • Ahli Jawatankuasa Penilaian Bagi Permohonan Geran Penyelidikan Di Bawah Tadbir Urus Institut Pengurusan & Pemantauan Penyelidikan (IPPP) Peringkat Universiti Malaya
    01 Jan 2015 - 30 Dec 2016 (University Malaya)
  • Supervisor
    07 Mar 2016 - 18 Mar 2016 (National)
  • Ahli Jawatankuasa "National Credentialling Committee" untuk kepakaran Pediatrik dan subkepakaran 'Clinical Genetics'
    04 Jan 2014 - 03 Jan 2016 (National)
  • Member of the Medical Advisory Committee, University of Malaya Medical Centre
    01 Nov 2011 - 31 Dec 2015 (Department of Paediatrics, Faculty of Medicine)
  • Ahli Jawatankuasa Credentialing and Previleging Pusat Perubatan Universiti Malaya
    01 Jan 2014 - 31 Dec 2015 (University Malaya)
  • Panel member, Health and Translational Medicine Research Cluster
    01 Jan 2013 - 31 Dec 2014 (University Malaya)
  • Chairman, Postgraduate Affairs, Department of Paediatrics
    01 Apr 2013 - 31 Dec 2014 ()
  • Kordinator Keseluruhan Klinikal Peperiksaan MBBS Ketiga 2013/2014
    01 Jan 2014 - 31 Dec 2014 (Faculty)
  • Member Problem-based Learning committee
    05 Nov 2002 - 31 Dec 2013 (Department of Paediatrics, Faculty of Medicine)
  • Head of Department
    01 Jul 2011 - 08 Jul 2011 (Department of Paediatrics, Faculty of Medicine)
  • Head of Department
    01 Sep 2009 - 30 Jun 2011 (Department of Paediatrics, Faculty of Medicine)

MEMBERSHIPS


  • MEDICAL GENETICS SOCIETY OF MALAYSIA, VICE PRESIDENT
    2022 to present (National)
  • ASIA PACIFIC SOCIETY OF HUMAN GENETICS, MEMBER
    Since 2014 (International)
  • COLLEGE OF PAEDIATRICS, ACADEMY OF MEDICINE OF MALAYSIA, PRESIDENT/ CHIEF
    Since 2012 (National)
  • MEDICAL GENETICS SOCIETY OF MALAYSIA, VICE PRESIDENT
    Since 2012 (National)
  • MALAYSIAN PAEDIATRIC ASSOCIATION, ADVISORY BOARD
    Since 1995 (National)
  • AMERICAN SOCIETY OF HUMAN GENETICS, MEMBER
    Since 1995 (International)
  • MEMBER OF THE COCHRANE COLLABORATION, MEMBER
    2021 to present (International)
  • PRESIDENT COLLEGE OF PAEDIATRICS, ACADEMY OF MEDICINE OF MALAYSIA, PRESIDENT/ CHIEF
    Since 2021 (National)
  • PAST PRESIDENT ASIA PACIFIC SOCIETY OF HUMAN GENETICS, PRESIDENT/ CHIEF
    Since 2007 (International)
  • LIFE TIME MEMBER MALAYSIA PAEDIATRIC ASSOCIATION, MEMBER
    Since 1995 (National)
  • HUMAN GENETICS SOCIETY OF AUSTRALASIA, MEMBER
    2022 to 2023 (International)
  • INTERNATIONAL FEDERATION OF HUMAN GENETICS SOCIETIES - APPOINTED MEMBER REPRESENTING ASIA-PACIFIC SOCIETY OF HUMAN GENETICS 2019-2024, COMMITTEE MEMBER
    2019 to 2023 (International)
  • INTERNATIONAL FEDERATION OF HUMAN GENETICS SOCIETIES EXECUTIVE BOARD MEETING, COMMITTEE MEMBER
    2022 to 2022 (International)
  • ACTION LAB LEADER UM TRANSFORMATION PLAN, MEMBER
    2021 to 2021 (University)
  • INTERNATIONAL FEDERATION OF HUMAN GENETICS SOCIETIES, EXCO MEMBER
    2015 to 2021 (International)
  • MEMBER OF THE AMERICAN SOCIETY OF HUMAN GENETICS, MEMBER
    2021 to 2021 (International)
  • AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, MEMBER
    2020 to 2020 (International)
  • PERSATUAN GENETIK MALAYSIA, COMMITTEE MEMBER, MEMBER
    Since 1996 (National)

AWARD AND STEWARDSHIP


  • American Society of Human Genetics Advocacy Award 2022
    American Society of Human Genetics, 2022 (International)
  • Awarded First Prize "A retrospective case-control study of inpatient healthcare service utilisation of children with congenital anomalies at a tertiary hospital"
    College of Paediatrics Academy of Medicine of Malaysia, 2021 (National)
  • World Health Organization for Collective Global Network for Rare Diseases (WHO CGN4RD)
    World Health Organization and Rare Diseases International, 2020 (International)
  • Pendidikan COVID-19
    Pusat Perubatan Universiti Malaya, 2020 (Ptj/ Faculty)
  • 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
    University of Malaya, 2015 (University)
  • 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 of 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 of 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 of 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)

PUBLICATIONS


Article in Journal
WoS
  1. Chan, Koon-Wing; Wong, Chung-Yin; Leung, Daniel; Yang, Xingtian; Fok, Susanna F. S.; Mak, Priscilla H. S.; Yao, Lei; Ma, Wen; Mao, Huawei; Zhao, Xiaodong; Liang, Weiling; Singh, Surjit; Barbouche, Mohamed-Ridha; He, Jian-Xin; Jiang, Li-Ping; Liew, Woei-Kang; Minh Huong Thi Le; Muktiarti, Dina; Santos-Ocampo, Fatima Johanna; Djidjik, Reda; Belaid, Brahim; Ismail, Intan Hakimah; Latiff, Amir Hamzah Abdul; Lee, Way Seah; Chen, Tong-Xin; Liu, Jinrong; Jin, Runming; Wang, Xiaochuan; Chien, Yin Hsiu; Yu, Hsin-Hui; Raj, Dinesh; Raj, Revathi; Vaughan, Jenifer; Urban, Michael; van den Berg, Sylvia; Eley, Brian; Lee, Anselm Chi-Wai; Isa, Mas Suhaila; Ang, Elizabeth Y.; Lee, Bee Wah; Yeoh, Allen Eng Juh; Shek, Lynette P.; Nguyen Ngoc Quynh Le; Van Anh Thi Nguyen; Anh Phan Nguyen Lien; Capulong, Regina D.; Michelle Mallillin, Joanne; Villanueva, Jose Carlo Miguel M.; Camonayan, Karol Anne B.; De Vera, Michelle; Casis-Hao, Roxanne J.; Lobo, Rommel Crisenio M.; Foronda, Ruby; Binas, Vicky Wee Eng; Boushaki, Soraya; Kechout, Nadia; Phongsamart, Gun; Wongwaree, Siriporn; Jiratchaya, Chamnanrua; Lao-Araya, Mongkol; Trakultivakorn, Muthita; Suratannon, Narissara; Jirapongsananuruk, Orathai; Chantveerawong, Teerapol; Kamchaisatian, Wasu; Chan, Lee Lee; Koh, Mia Tuang; Wong, Ke Juin; Fong, Siew Moy; Thong, Meow-Keong; Latiff, Zarina Abdul; Noh, Lokman Mohd; de Silva, Rajiva; Jouhadi, Zineb; Al-Saad, Khulood; Vignesh, Pandiarajan; Jindal, Ankur Kumar; Rawat, Amit; Gupta, Anju; Suri, Deepti; Yang, Jing; Au, Elaine Yuen-Ling; Kwok, Janette Siu-Yin; Chan, Siu-Yuen; Hui, Wayland Yuk-Fun; Chua, Gilbert T.; Duque, Jaime Rosa; Cheong, Kai-Ning; Chong, Patrick Chun Yin; Ho, Marco Hok Kung; Lee, Tsz-Leung; Wong, Wilfred Hing-Sang; Yang, Wanling; Lee, Pamela P.; Tu, Wenwei; Yang, Xi-Qiang; Lau, Yu Lung (2022). Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity, FRONTIERS IN IMMUNOLOGY. 13. doi:10.3389/fimmu.2022.883446
  2. Kumuthini, Judit; Zick, Brittany; Balasopoulou, Angeliki; Chalikiopoulou, Constantina; Dandara, Collet; El-Kamah, Ghada; Findley, Laura; Katsila, Theodora; Li, Rongling; Bon Maceda, Ebner; Monye, Henrietta; Rada, Gabriel; Thong, Meow-Keong; Wanigasekera, Thilina; Kennel, Hannah; Marimuthu, Veeramani; Williams, Marc S.; Al-Mulla, Fahd; Abramowicz, Marc (2022). The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review, HUMAN GENETICS. . doi:10.1007/s00439-022-02452-x
  3. Lee, Yong-Quan; Yoon, Sook-Yee; Hassan, Tiara; Padmanabhan, Heamanthaa; Yip, Cheng-Har; Keng, Wee-Teik; Thong, Meow-Keong; Annuar, Muhammad Azrif Ahmad; Taib, Nur Aishah Mohd; Teo, Soo-Hwang (2022). Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country, JOURNAL OF GENETIC COUNSELING. . doi:10.1002/jgc4.1579
  4. Mohd-Zin, Siti Waheeda; Tan, Amelia Cheng Wei; Atroosh, Wahib M.; Thong, Meow-Keong; Azizi, Abu Bakar; Greene, Nicholas D. E.; Abdul-Aziz, Noraishah Mydin (2022). Eph and Ephrin Variants in Malaysian Neural Tube Defect Families, GENES. 13(6). doi:10.3390/genes13060952
  5. Nathan, A. M.; de Bruyne, J.; Eg, K. P.; Ismail, N. D.; Koh, M. T.; Tan, L. T.; Thong, M. K.; Tae, S. K. T.; Atiya, N. B.; Tubirin, S. H.; H'ng, S. Y. (2022). Management of Multi-Drug Resistant Non-Tuberculous Mycobacteria Infection in Children with Cystic Fibrosis: Two Case Studies, PEDIATRIC PULMONOLOGY. 57, S132-S133
  6. Padmanabhan, Heamanthaa; Hassan, Nur Tiara; Wong, Siu-Wan; Lee, Yong-Quan; Lim, Joanna; Hasan, Siti Norhidayu; Yip, Cheng-Har; Teo, Soo-Hwang; Thong, Meow-Keong; Taib, Nur Aishah Mohd; Yoon, Sook-Yee (2022). Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk, PLOS ONE. 17(2). doi:10.1371/journal.pone.0263675
  7. Padmanabhan, Heamanthaa; Mariapun, Shivaani; Lee, Sheau-Yee; Hassan, Nur Tiara; Lee, Daphne Shin-Chi; Meiser, Bettina; Wong, Siu-Wan; Lee, Yong-Quan; Yip, Cheng-Har; Teo, Soo-Hwang; Thong, Meow-Keong; Taib, Nur Aishah Mohd; Yoon, Sook-Yee (2022). Impact of BRCA1/2 cascade testing on anxiety, depression, and cancer worry levels among unaffected relatives in a multiethnic Asian cohort, JOURNAL OF GENETIC COUNSELING. . doi:10.1002/jgc4.1619
  8. Thong, Meow-Keong; Tae, Sok-Kun; Mazlan, Rifhan; Fong, Choong Yi; Marie, Nathan Anna; Li, Limin; Lim, Wei-Kang; Eg, Kah-Peng (2022). Ethical issues related to gene therapy with onasemnogene abeparvovec for spinal muscular atrophy type 1 in a developing country, GENETICS IN MEDICINE. 24(3), S274-S275. doi:10.1016/j.gim.2022.01.472
  9. Yoon, Sook-Yee; Wong, Siu Wan; Lim, Joanna; Ahmad, Syuhada; Mariapun, Shivaani; Padmanabhan, Heamanthaa; Hassan, Nur Tiara; Lau, Shao Yan; Ch'ng, Gaik-Siew; Haniffa, Muzhirah; Ong, Winnie P.; Rethanavelu, Kavitha; Moey, Lip Hen; Keng, Wee Teik; Omar, Jamil; Mohd Abas, Mohd Norazam; Yong, Chee Meng; Ramasamy, Vickneswaren; Md Noor, Mohd Rushdan; Aliyas, Ismail; Lim, Michael C. K.; Suberamaniam, Anuradha; Mat Adenan, Noor Azmi; Ahmad, Zatul Akmar; Ho, Gwo Fuang; Abdul Malik, Rozita; Subramaniam, Suguna; Khoo, Boom Ping; Raja, Arivendran; Chin, Yeung Sing; Sim, Wee Wee; Teh, Beng Hock; Kho, Swee Kiong; Ong, Eunice S. E.; Voon, Pei Jye; Ismail, Ghazali; Lee, Chui Ling; Abdullah, Badrul Zaman; Loo, Kwong Sheng; Lim, Chun Sen; Lee, Saw Joo; Lim, Keng Joo Lim; Shafiee, Mohamad Nasir; Ismail, Fuad; Latiff, Zarina Abdul; Ismail, Mohd Pazudin; Mohamed Jamli, Mohamad Faiz; Kumarasamy, Suresh; Leong, Kin Wah; Low, John; Md Yusof, Mastura; Ahmad Mustafa, Ahmad Muzamir; Mat Ali, Nor Huda; Makanjang, Mary; Tayib, Shahila; Cheah, Nellie; Lim, Boon Kiong; Fong, Chee Kin; Foo, Yoke Ching; Mellor Abdullah, Matin; Tan, Teck Sin; Chow, Doris S. Y.; Ho, Kean Fatt; Raman, Rakesh; Radzi, Ahmad; Deniel, Azura; Teoh, Daren C. Y.; Ang, Soo Fan; Joseph, Joseph K.; Ng, Paul Hock Oon; Tho, Lye-Mun; Ahmad, Azura Rozila; Muin, Ileena; Bleiker, Eveline; George, Angela; Thong, Meow-Keong; Woo, Yin Ling; Teo, Soo Hwang (2022). Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes, JOURNAL OF MEDICAL GENETICS. . doi:10.1136/jmedgenet-2020-107416
  10. Lee, D. S. C., Meiser, B., Mariapun, S., Hassan, T., Yip, C. H., Taib, N. M. A., . . . Yoon, S. Y. (2021). Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting. Journal of Genetic Counseling, 30(3), 720-729. doi: 10.1002/jgc4.1360
  11. Thong, Meow-Keong; Ngim, Chin-Fang (2021). beta-Thalassemias, NEW ENGLAND JOURNAL OF MEDICINE. 384(22), 2165-2165. doi:10.1056/NEJMc2105064
  12. Delatycki, M. B., Alkuraya, F., Archibald, A., Castellani, C., Cornel, M., Grody, W. W., . . . Zlotogora, J. (2020). International perspectives on the implementation of reproductive carrier screening. Prenatal Diagnosis, 40(3), 301-310. doi: 10.1002/pd.5611
  13. Kruszka, P., Addissie, Y. A., Tekendo-Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., . . . Muenke, M. (2020). Turner syndrome in diverse populations. American Journal of Medical Genetics Part A, 182(2), 303-313. doi: 10.1002/ajmg.a.61461
  14. Li, L. M., Fong, C. Y., Tay, C. G., Tae, S. K., Suzuki, H., Kosaki, K., Thong, M. K. (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, 71, 289-292. doi: 10.1016/j.jocn.2019.08.111
  15. Ngim, C. F., Lai, N. M., Hong, J. Y. H., Tan, S. L., Ramadas, A., Muthukumarasamy, P., & Thong, M. K. (2020). Growth hormone therapy for people with thalassaemia. Cochrane Database of Systematic Reviews(5), 32. doi: 10.1002/14651858.CD012284.pub3
  16. Shafie, A. A., Supian, A., Hassali, M. A. A., Ngu, L. H., Thong, M. K., Ayob, H., & Chaiyakunapruk, N. (2020). Rare disease in Malaysia: Challenges and solutions. PloS one, 15(4), 17. doi: 10.1371/journal.pone.0230850
  17. Shafie, Asrul Akmal; Supian, Azuwana; Hassali, Mohamed Azmi Ahmad; Ngu, Lock-Hock; Thong, Meow-Keong; Ayob, Hatijah; Chaiyakunapruk, Nathorn (2020). Rare disease in Malaysia: Challenges and solutions, PLOS ONE. 15(4). doi:10.1371/journal.pone.0230850
  18. Tay, C. G., Fong, C. Y., Li, L. M., Ganesan, V., Teh, C. M., Gan, C. S., Thong, M. K. (2020). Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors. Journal of Clinical Neuroscience, 72, 468-471. doi: 10.1016/j.jocn.2019.12.007
  19. Tekendo-Ngongang, C., Owosela, B., Fleischer, N., Addissie, Y. A., Malonga, B., Badoe, E., . . . Kruszka, P. (2020). Rubinstein-Taybisyndrome in diverse populations. American Journal of Medical Genetics Part A, 182(12), 2939-2950. doi: 10.1002/ajmg.a.61888
  20. Fong, C. Y., Ng, K., Kong, A. N., Ong, L. C., Rithauddin, M. A., Thong, M. K., . . . Yahya, N. (2019). Quality of life of children with tuberous sclerosis complex. Archives of Disease in Childhood, 104(10), 972-978. doi:10.1136/archdischild-2018-316394
  21. Hussein, M. H., Ow, S. H., Cheong, L. S., Thong, M. K. (2019). A Digital Game-Based Learning Method to Improve Students Critical Thinking Skills in Elementary Science. Ieee Access, 7, 96309-96318. doi:10.1109/access.2019.2929089
  22. Hussein, M. H., Ow, S. H., Cheong, L. S., Thong, M. K., Ebrahim, N. A. (2019). Effects of Digital Game-Based Learning on Elementary Science Learning: A Systematic Review. Ieee Access, 7, 62465-62478. doi:10.1109/access.2019.2916324
Scopus
  1. Chan K.-W., Wong C.-Y., Leung D., Yang X., Fok S.F.S., Mak P.H.S., Yao L., Ma W., Mao H., Zhao X., Liang W., Singh S., Barbouche M.-R., He J.-X., Jiang L.-P., Liew W.-K., Le M.H.T., Muktiarti D., Santos-Ocampo F.J., Djidjik R., Belaid B., Ismail I.H., Abdul Latiff A.H., Lee W.S., Chen T.-X., Liu J., Jin R., Wang X., Chien Y.H., Yu H.-H., Raj D., Raj R., Vaughan J., Urban M., Berg S.V.D., Eley B., Lee A.C.-W., Isa M.S., Ang E.Y., Lee B.W., Yeoh A.E.J., Shek L.P., Quynh Le N.N., Nguyen V.A.T., Phan Nguyen Lien A., Capulong R.D., Mallillin J.M., Villanueva J.C.M.M., Camonayan K.A.B., Vera M.D., Casis-Hao R.J., Lobo R.C.M., Foronda R., Binas V.W.E., Boushaki S., Kechout N., Phongsamart G., Wongwaree S., Jiratchaya C., Lao-Araya M., Trakultivakorn M., Suratannon N., Jirapongsananuruk O., Chantveerawong T., Kamchaisatian W., Chan L.L., Koh M.T., Wong K.J., Fong S.M., Thong M.-K., Latiff Z.A., Noh L.M., Silva R.D., Jouhadi Z., Al-Saad K., Vignesh P., Jindal A.K., Rawat A., Gupta A., Suri D., Yang J., Au E.Y.-L., Kwok J.S.-Y., Chan S.-Y., Hui W.Y.-F., Chua G.T., Duque J.R., Cheong K.-N., Chong P.C.Y., Ho M.H.K., Lee T.-L., Wong W.H.-S., Yang W., Lee P.P., Tu W., Yang X.-Q., Lau Y.L. (2022). Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity, Frontiers in Immunology. 13. doi:10.3389/fimmu.2022.883446
  2. Kumuthini J., Zick B., Balasopoulou A., Chalikiopoulou C., Dandara C., El-Kamah G., Findley L., Katsila T., Li R., Maceda E.B., Monye H., Rada G., Thong M.-K., Wanigasekera T., Kennel H., Marimuthu V., Williams M.S., Al-Mulla F., Abramowicz M. (2022). The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review, Human Genetics. 141(11), 1697-1704. doi:10.1007/s00439-022-02452-x
  3. Lee Y.-Q., Yoon S.-Y., Hassan T., Padmanabhan H., Yip C.-H., Keng W.-T., Thong M.-K., Ahmad Annuar M.A., Mohd Taib N.A., Teo S.-H. (2022). Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country, Journal of Genetic Counseling. 31(5), 1080-1089. doi:10.1002/jgc4.1579
  4. Mohd-Zin S.W., Tan A.C.W., Atroosh W.M., Thong M.-K., Azizi A.B., Greene N.D.E., Abdul-Aziz N.M. (2022). Eph and Ephrin Variants in Malaysian Neural Tube Defect Families, Genes. 13(6). doi:10.3390/genes13060952
  5. Padmanabhan H., Hassan N.T., Wong S.-W., Lee Y.-Q., Lim J., Hasan S.N., Yip C.-H., Teo S.-H., Thong M.-K., Taib N.A.M., Yoon S.-Y. (2022). Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk, PloS one. 17(2), e0263675. doi:10.1371/journal.pone.0263675
  6. Yoon S.-Y., Wong S.W., Lim J., Ahmad S., Mariapun S., Padmanabhan H., Hassan N.T., Lau S.Y., Ch'ng G.-S., Haniffa M., Ong W.P., Rethanavelu K., Moey L.H., Keng W.T., Omar J., Mohd Abas M.N., Yong C.M., Ramasamy V., Md Noor M.R., Aliyas I., Lim M.C.K., Suberamaniam A., Mat Adenan N.A., Ahmad Z.A., Ho G.F., Abdul Malik R., Subramaniam S., Khoo B.P., Raja A., Chin Y.S., Sim W.W., Teh B.H., Kho S.K., Ong E.S.E., Voon P.J., Ismail G., Lee C.L., Abdullah B.Z., Loo K.S., Lim C.S., Lee S.J., Lim K.J.L., Shafiee M.N., Ismail F., Latiff Z.A., Ismail M.P., Mohamed Jamli M.F., Kumarasamy S., Leong K.W., Low J., Md Yusof M., Ahmad Mustafa A.M., Mat Ali N.H., Makanjang M., Tayib S., Cheah N., Lim B.K., Fong C.K., Foo Y.C., Mellor Abdullah M., Tan T.S., Chow D.S.Y., Ho K.F., Raman R., Radzi A., Deniel A., Teoh D.C.Y., Ang S.F., Joseph J.K., Ng P.H.O., Tho L.-M., Ahmad A.R., Muin I., Bleiker E., George A., Thong M.-K., Woo Y.L., Teo S.H. (2022). Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes, Journal of Medical Genetics. 59(3), 220-229. doi:10.1136/jmedgenet-2020-107416
  7. Lee, D. S. C., Meiser, B., Mariapun, S., Hassan, T., Yip, C. H., Mohd Taib, N. A., . . . Yoon, S. Y. (2021). Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting. Journal of Genetic Counseling, 30(3), 720-729. doi: 10.1002/jgc4.1360
  8. Shafie, A. A., Supian, A., Hassali, M. A. A., Ngu, L. H., Thong, M. K., Ayob, H., Chaiyakunapruk, N. (2020). Rare disease in Malaysia: Challenges and solutions. PloS one, 15(4). doi: 10.1371/journal.pone.0230850
  9. Tay, C. G., Fong, C. Y., Li, L., Ganesan, V., Teh, C. M., Gan, C. S., & Thong, M. K. (2020). Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors. Journal of Clinical Neuroscience, 72, 468-471. doi:10.1016/j.jocn.2019.12.007
  10. Zahari N., Mat Bah M.N., A. Razak H., Thong M.-K. (2019). Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country, European Journal of Pediatrics. 178(8), 1267-1274. doi:10.1007/s00431-019-03403-x
  11. Abdullah N.L., Gunasekaran R., Mohd-Zin S.W., Lim B.-H., Maniam P., Mohd-Salleh A.S., Thong M.-K., Chik Z., Nordin N., Omar Z., Engkasan J.P., Ganesan D., Aiezzah Z.N., Ahmad-Annuar A., Abdul-Aziz N.M. (2018). Cranial neural tube defect after trimethoprim exposure, BMC Research Notes. 11(1). doi:10.1186/s13104-018-3593-1
  12. Goh L.C., Azman A., Siti H.B.K., Khoo W.V., Muthukumarasamy P.A., Thong M.K., Abu Bakar Z., Manuel A.M. (2018). An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children, International Journal of Pediatric Otorhinolaryngology. 109, 50-53. doi:10.1016/j.ijporl.2018.03.010
Others
  1. Kumuthini J, Zick B, Balasopoulou A, Chalikiopoulou C, Dandara C, El-Kamah G, Findley L, Katsila T, Li R, Maceda EB, Monye H, Rada G, Thong MK, Wanigasekera T, Kennel H, Marimuthu V; G2MC Evidence investigators, Williams MS, Al-Mulla F, Abramowicz M. The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review. Hum Genet. 2022 Apr 30:1-8.
  2. Padmanabhan H, Hassan NT, Wong SW, Lee YQ, Lim J, Hasan SN, Yip CH, Teo SH,Thong MK, Mohd Taib NA, Yoon SY. Psychosocial impact and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk. PLoS One. 2022 Feb 15;17(2):e0263675. doi: 10.1371/journal.pone.0263675
  3. Yoon S, Wong SW, Lim J, et al, Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes Journal of Medical Genetics Published Online First: 01 February 2021. doi: 10.1136/jmedgenet-2020-107416
  4. 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
  5. Ngim CF, Lai NM, Hong JYH, Tan SL, Ramadas A, Muthukumarasamy P, Thong M-K. (2020) Growth hormone therapy for people with thalassaemia. Cochrane Database of Systematic Reviews 2020, Issue 5. Art. No.: CD012284.
  6. 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.
  7. 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
  8. 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
  9. 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.:
  10. 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
  11. 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.
  12. 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.
  13. 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
  14. 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
  15. 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.
  16. 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.
  17. 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
  18. 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.
  19. 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
  20. 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.
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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 , Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Ch vez 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.
  26. 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.
  27. 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.
  28. 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
  29. 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
  30. 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.
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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, Ch vez 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.
  40. 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
  41. 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
  42. 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.
  43. 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.
  44. 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
  45. Rokicki D, Pajdowska M, Trubicka J, Thong MK; Ciara E, Piekutowska-Abramczuk D, Pronicki M, Sikora R, Hajdar R, O tarzewski M, Jab o ska 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
  46. 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
  47. Thong MK, Sofiah A, Park YE , Kim DS, Goh KJ, Wong KT.(2017) Congenital muscular dystrophy due to laminin 2 (merosin) deficiency (MDC1A) in an ethnic Malay girl. Neurology Asia 2017; 22(2): 155-159
  48. 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.
  49. 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
  50. 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
  51. 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
  52. 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
  53. 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
  54. 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.
  55. 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.
  56. 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
  57. 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
  58. 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.
  59. 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
  60. 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
  61. 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)
  62. 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
  63. 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)
  64. 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
  65. 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)
  66. 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)
  67. 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
  68. 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)
  69. 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)
  70. 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.
  71. 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)
  72. 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.
  73. 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)
  74. 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
  75. 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
  76. 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.
  77. 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
  78. 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
  79. 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
  80. 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)
  81. 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
  82. 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
  83. 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.
  84. 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)
  85. 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
  86. 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
  87. 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.
  88. 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
  89. 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
  90. 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)
  91. 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
  92. 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)
  93. Thong MK, Zabedah MY. 2008. Spectrum of Inherited Metabolic Disorders in Malaysia. Annals of Academy of Medicine, Singapore 37 (Suppl 3): 66-70
  94. 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
  95. 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.
  96. 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
  97. 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.
  98. 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
  99. 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.
  100. 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.
  101. 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
  102. 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.
  103. 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
  104. 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
  105. Thong, M. K., Ho, J. J., Khatijah, N. N. 2005. A population-based study of birth defects in Malaysia Annals of Human Biology
  106. 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
  107. Chan L, Gopinathan R, Thong MK. Mucopolysaccharidosis: airway risk to anaesthetists. Asean Journal of Anaesthesiology 2003; 4 (1): 52-4.
  108. 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
  109. 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.
  110. 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.
  111. 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.
  112. 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
  113. 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
  114. 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
  115. 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.
  116. 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.
  117. 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
  118. 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
  119. Thong, M. K. 1998. Dengue shock syndrome and acute respiratory distress syndrome Lancet
  120. Thong, M. K. 1998. Memorable patients - Down but not out British Medical Journal
  121. 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
  122. 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.
  123. 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
  124. Hany A, Thong MK, Lin HP. X-linked lymphoproliferative disease in a Malaysian family. Singapore Med. Journal 1996; 37: 325-7.
  125. Thong MK, Lim CT, Koh MT, Kumar GG. The Lissencephalic Syndromes. Med J Malaysia 1996; 51(3): 353-7.
  126. Thong MK, Manonmani V, Siti Norlasiah I. Supernumerary chromosomes in mosaic Turner Syndrome. Med J Malaysia 1996; 51(4): 487-90.
  127. 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.
  128. Lum, L. C. S., Thong, M. K., Cheah, Y. K., Lam, S. K. 1995. DENGUE-ASSOCIATED ADULT-RESPIRATORY-DISTRESS-SYNDROME Annals of Tropical Paediatrics
  129. 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.
Books
  1. 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.
  2. Thong M.K. (2016) Apakah itu sindrom Down? Second Edition
  3. 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.
  4. Chin, N.F., Thong, Meow-Keong. 2011. Rare Journeys of Love. Persatuan Penyakit Jarang Jumpa Malaysia. 148 pages
  5. 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
  6. 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.
  7. Lee WS, Thong Meow Keong, Wong CP "Handbook of Hospital Paediatrics. ISBN 983-41983-5-3. 289 pages. 2005, UniPress Publishing, pg. 289
  8. 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.
  9. 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 Books
  1. 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
  2. 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.
  3. 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.
  4. 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.
  5. 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
  6. 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
  7. Thong MK. 2009. Cardiorespiratory arrest. In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009.
  8. 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
  9. 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
  10. 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
  11. 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
Article in Proceeding
  1. 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
  2. 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.
  3. 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.
  4. 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
  5. Thong MK (2019) Treatable inherited diseases revisited. Presented at the 13th Asia-Pacific Conference on Human Genetics (APCHG) Manila, Philippines 7-10th November 2019.
  6. 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,
  7. 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,
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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.
  17. 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
  18. 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
  19. 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
  20. 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).
  21. 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)
  22. 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)
  23. 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)
  24. 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)
  25. 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)
  26. 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.
  27. 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.
  28. 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.
  29. 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
  30. 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
  31. 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.
  32. Yik YI, Ramanujam TM, Hany A, Cheah PL, Thong MK. Childhood renal cell carcinoma. Med J Malaysia 2003; 58: 163-4.
  33. 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
Other Publications
  1. BFM radio interview live on 28th Feb 2020 on Rare Disease Day - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  2. Press Statement by Academy of Medicine of Malaysia on COVID-19 pandemic in Malaysia - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  3. Press statement Academy of Medicine of Malaysia on COVID-19 pandemic in Malaysia - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  4. BERNAMA TV Live Affairs interview on rare diseases day 25th Feb 2019 Challenges and realities of diagnosis of rare disease - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  5. Glucose-6-phosphate dehydrogenase deficiency - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  6. 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. - Technical Report
  7. Press article on high cost of treatment for rare diseases - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  8. Press interview 1st Genetic Counselling workshop in Malaysia with Deputy Health Minister - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  9. Press interview on genetic services for ovarian cancer - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  10. Press statement by College of Paediatrics Academy of Medicine of Malaysia and Malaysia Paediatric Association - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  11. Publication of White Paper on Rare Diseases in Malaysia December 2019 by Institute for Democracy and Economic Affairs - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  12. 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) - Technical Report
  13. Astro Awani interview on the issue Malaysia bina semula industry sains Malaysia melalui sector kesihatan on the 26th August 2018 - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  14. Opinion piece op-ed on uncertain funding by the PH government for rare diseases - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  15. 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). - Technical Report
  16. Radio Interview on Down syndrome on radio BFM on 6th April 2017. World Down Syndrome Day 21st March 2017 - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  17. NST interview on sex education - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  18. Osteogenesis imperfecta - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  19. Interview by The Star on the issue of Congenital abnormalities the main killer of infants published on the 12th December 2014. - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  20. 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 - Technical Report
  21. Interview with Utusan Malaysia on "Penyakit Bawaan Genetik dan Sindrom Marfan" 4th October 2012 - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  22. 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. - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  23. 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 - Monograph
  24. Doctor's viewpoint on rae diseases - Mass Media(Newspaper,Radio,Tv,Popular Magazine)
  25. 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. - Technical Report
  26. Thong MK, Choy YS, Rowani MR. Inborn errors of metabolism. Malaysian Journal of Paediatrics and Child Health 2001, 13 (1&2) : 19-26. - Review

RESEARCH INTEREST


  • Genetic counselling
  • Inherited metabolic disorders
  • Problem based learning
  • Adult-onset Genetics
  • Birth Defects and Dysmorphology

RESEARCH PROJECT


National
  1. 2019 - 2023, Fundamental Research Grant Scheme (FRGS)
    Identification Of Candidate Gene Variants And Its Relevance In The Understanding Of Spina Bifida In Malaysia ( Principal Investigator(PI))
  2. 2018 - 2019, Bantuan Khas Penyelidikan (BKP Special)
    Ephrinb1(efnb1), Ephb6 (ephb6) And Epha2 (epha2) As Gene Candidates For Spina Bifida ( Co-Researcher)
  3. 2018 - 2019, RU Geran - ADEC
    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))
  4. 2015 - 2017, Geran Penyelidikan Universiti Malaya (UMRG) - AFR (Frontier Science)
    Molecular characterisation of Beckwith-Wiedemann syndrome and Russell-Silver syndrome affecting normal growth in Malaysian children ( Co-Researcher)
  5. 2012 - 2013, Geran Penyelidikan Universiti Malaya (UMRG) - HTM (Wellness)
    Pulse Oximetry Screening for Critical Congenital Heart Defects in apparently well term newborns ( Co-Researcher)
  6. 2010 - 2012, Fundamental Research Grant Scheme (FRGS)
    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))
  7. 2017 - 2022, Sanofi-Aventis (M) Sdn. Bhd
    Rare Disease Registry Program ( Principal Investigator(PI))
  8. 2021 - 2022, Hubert-Curien Partnership (PHC-Hibiscus)
    Socialization of eating practices of children with Prader-Willi syndrome ( Principal Investigator(PI))
  9. 2016 - 2020, International Funding
    Mainstreaming Genetic Counselling for Genetic Testing of BRCA1 and BRCA2 in Ovarian Cancer Patients in Malaysia (MaGiC) ( Consultant)
  10. 2011 - 2015, High Impact Research (HIR)
    Investigating EphA2 phosphorylation and signalling mechanism in adhesion and fusion of the spinal neural tube ( Consultant)
  11. 2013 - 2014, Novartis (M) Sdn Bhd
    Malaysian registry for children with tuberous sclerosis complex (TSC) ( Consultant)
  12. 2006 - 2012, MOSTI
    Detection of Familial Hypercholesterolemia gene mutation amongst the Malaysian population ( Consultant)
  13. 2010 - 2012, Fundamental Research Grant Scheme (FRGS)
    Study of micro ribonucleic acid (miRNA) patterns and messesnger RNA splicingamong myotonic dystrophy (RM1) patients of different ages and clinical features. ( Principal Investigator(PI))
  14. 2009 - 2010, Geran Penyelidikan Universiti Malaya (UMRG)
    Inborn errors of metabolism: a clinical and laboratory evaluation in acutely ill paediatric patients ( Consultant)
  15. 2008 - 2009, Short Term Research Fund (Vote F)(PJP)
    Confirmation of myotonic dystrophy among Malaysian patients. ( Principal Investigator(PI))
  16. 2002 - 2005, IRPA
    Epidemiology and prevention of major birth defects in the Kinta district, Perak, Malaysia ( Principal Investigator(PI))
International
  1. 2022 - 2025, Novartis Corporation (Malaysia) Sdn Bhd
    A randomized, sham-controlled, double-blind study to evaluate the efficacy and safety of intrathecal (IT) OAV101 in patients with later onset Type 2 spinal muscular atrophy (SMA) who are 2 to < 18 years of age, treatment naive, sitting, and never ambulatory ( Principal Investigator(PI))
  2. 2017 - 2025, SANOFI-AVENTIS (M) SDN. BHD
    RARE DISEASE REGISTRY PROGRAM ( Principal Investigator(PI))
  3. 2018 - 2022, PTC Therapeutics, Inc.
    Phase 3, Randomised Double-Blind, Placebo-Controlled Efficacy and Safety Study of Ataluren With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension ( Principal Investigator(PI))
  4. 2017 - 2022, International Funding
    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))
  5. 2020 - 2022, International Funding
    The Socialization of eating practices in children with Prader-Willi syndrome. Hubert-Curien Partnership (PHC-Hibiscus) Project ( Co-Researcher)
  6. 2020 - 2022, Asia-Pacific Society of Human Genetics
    Impact of COVID-19 Pandemic on Genetic Services across Asia ( Principal Investigator(PI))
  7. 2017 - 2021, International Funding
    Rare Disease Registry Program ( Principal Investigator(PI))
  8. 2021 - 2021
    SOMEHAVE - SOcial MEdia on HesitAncy in Vaccine E-survey: Would you vaccinate your child against COVID-19?, National University of Singapore ( Co-Researcher)
  9. 2016 - 2020, International Funding
    Personalized Genomic Research: Congenital Malformations ( Consultant)
  10. 2012 - 2014, High Impact Research (HIR)
    Elucidation of The Mechanism and Rescue of the Human Neural Tube Defects Gene(s) ( Consultant)
  11. 2010 - 2013, High Impact Research (HIR)
    Is the leading edge of neurulation an asymmetrical lamellipodia-like structure emanating from the surface ectoderm and whether this mirrors the human spina bifida condition? ( Consultant)
  12. 2007 - 2012, IRPA
    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. ( Consultant)

CONSULTANCY PROJECT


  • Molecular and Genetic Services, Sunway Bhd, Professional Consultant (Ir., Ar., Sr., Ts., dsbnya)
    01 Aug 2021 - 31 Jul 2022 (National)
  • Malaysian Paediatric Covid-19 Vaccination Position Paper, College of Paediatrics Academy of Medicine of Malaysia, Consultant
    17 Nov 2021 - 31 Jan 2022 (National)
  • Molecular and Genetic Services, Sunway Bhd
    01 Dec 2018 - 01 Dec 2021 (National)
  • Rare Diseases in Malaysia: Development of National Policy, Institute of Democracy and Economic Affairs (IDEAS)
    01 Jul 2018 - 01 Jul 2020 (National)
  • Genetic Counselling for Familial Breast Cancer, Cancer Research Malaysia
    01 Jul 2013 - 01 Jul 2018 (National)
  • University of Malaya Specialist Centre, Universiti Malaya Specialist Centre Sdn Bhd
    01 Jul 2000 - 01 Jul 2017 (National)

PAPER PRESENTED


PLENARY SPEAKER
  1. Genomics in Perinatology., 23rd Regional Congress of the Perinatal Society of Malaysia, Perinatal Society of Malaysia (International) (01 Dec 2016 - 03 Dec 2016)
  2. Personalized and precision medicine: are we there yet?, 11th Asia-Pacific Conference on Human Genetics (International) (16 Sep 2015 - 18 Sep 2015)
  3. Genes, Medicine and Society: From Paediatrics to Genetic Counselling and Beyond, Syarahan Perdana Universiti Malaya, University of Malaya (University) (15 Jul 2011 - 15 Jul 2011)
  4. New Genetics and its Implications for Paediatric Practice., The 32nd Malaysian Paediatric Association annual congress , Malaysian Paediatric Association (National) (15 Oct 2010 - 17 Oct 2010)
INVITED SPEAKER
  1. Basic Genetics and Genetic Counselling, Paediatric Craniofacial Workshop 2022 17th Dec 2022 Nexus Bangsar KL, Department of Oral and Maxillofacial Clinical Sciences (National) (17 Dec 2022 - 17 Dec 2022)
  2. Better Beginnings: Newborn Screening, Genetic Testing, Genomic Sequencing, Genetic Education, APARDO CONFERENCE 2022 APARDO Bangkok Thailand 26 27th Nov 2022, Asia Pacific Alliance of Rare Disease Organisations (APARDO) and Rare Disease International (RDI) (International) (26 Nov 2022 - 27 Nov 2022)
  3. Treatable inherited conditions re-visited ., 3rd Genomics and Genetic Counselling Conference, Genetic Counselling Society of Malaysia (National) (19 Nov 2022 - 20 Nov 2022)
  4. Genetics Counselling in the Era of Genomic Medicine, WORKSHOP ON GENOMIC MEDICINE & GENETIC DISEASE UPDATE 2022 9th 11th Nov 2022 Setia Alam, College of Paediatrics Academy of Medicine of Malaysia and IMR and Human Variome Project (National) (09 Nov 2022 - 11 Nov 2022)
  5. Genetic Counseling in the Genomic Era, Asia Pacific Society of Human Genetics (APSHG) Summer School Bangkok Thailand 21st 22nd October 2022, Asia Pacific Society of Human Genetics (International) (21 Oct 2022 - 22 Oct 2022)
  6. Rare diseases - from genomic testing to therapy, The 17th Congress of Asian Society for Pediatric Research (ASPR2022), Asian Society for Pediatric Research (International) (17 Sep 2022 - 18 Sep 2022)
  7. Genomic Counselling, The 3rd Indonesian Society of Human Genetics (InaSHG) Annual Meeting in conjunction with The 1st Indonesian Society of Genetic Counselor (ISGC) Conference, The Indonesian Society of Human Genetics (InaSHG) and Indonesian Society of Human Conselor (ISGC) in collaboration with the Faculty of Medicine, Universitas Airlangga (International) (11 Sep 2022 - 11 Sep 2022)
  8. Genetic Counselling in Genomic Medicine: New Challenges and Opportunities, MEDICAL GENETICS CONFERENCE KUALA LUMPUR 2022 (MGCKL 2022) MGSOM MGCKL 7-9th Sept 2022 Nexus Bangsar, Medical Genetics Society of Malaysia, Chapter of Medical Genetic Pathology, College of Pathologists Malaysia and Pantai Premier Pathology (National) (07 Sep 2022 - 09 Sep 2022)
  9. Genomic Medicine in Clinical Practice - Challenges and Opportunities, 4th AMM-AMS-HKAM Tripartite Congress and 55th Singapore-Malaysia Congress of Medicine , Academy of Medicine Singapore (International) (22 Jul 2022 - 24 Jul 2022)
  10. Introduction to Genetic Counselling and Testing, The 29th International Congress of the Obstetrical and Gynaecological Society of Malaysia (OGSM 2022), 22-24 July, Obstetrical and Gynaecological Society of Malaysia  (International) (22 Jul 2022 - 24 Jul 2022)
  11. Genomic Medicine in Children, Challenges and Opportunities , 14TH MOH-AMM SCIENTIFIC MEETING 2022 IN CONJUNCTION WITHTHE 23RD NIH SCIENTIFIC CONFERENCE, Ministry of Health Malaysia and Academy of Medicine of Malaysia (National) (19 Jul 2022 - 21 Jul 2022)
  12. Genetics of Vascular Anomalies: Current Perspective, The 14th Malaysian International ORL-HNS Congress, Malaysian Society of Otorhinolaryngologists-Head and Neck Surgeons (International) (16 Jun 2022 - 18 Jun 2022)
  13. Post-pandemic era: New Perspective in Rare Disease Access, 1st Southeast Asia Rare Disease Summit, Medical Genetics and Genomics Association (International) (20 Jan 2022 - 21 Jan 2022)
  14. Current landscape and future of genetic testing, diagnosis and treatment, Asia Pacific Alliance of Rare Disease Organizations (APARDO) conference, Asia Pacific Alliance of Rare Disease Organizations (APARDO)  (International) (14 Dec 2021 - 15 Dec 2021)
  15. Genetics of craniosynostosis syndromes , Breakfast@UMHealth, FOM Visibility Unit (National) (08 Dec 2021 - 08 Dec 2021)
  16. Inborn Error of Metabolism: Clinical Perspectives, National Institutes of Health Research Webinar, Institute for Medical Research Ministry of Health Malaysia (National) (08 Sep 2021 - 08 Sep 2021)
  17. Research and Clinical Practice in the Genomic Era: Challenges and Opportunities , 2nd Indonesia Society of Human Genetics Conference, Indonesia Society of Human Genetics (International) (04 Sep 2021 - 05 Sep 2021)
  18. Genetics of Neural Tube Defects, Malaysia Neural Tube Defects Day, International Brain Research Organization (International) (07 Aug 2021 - 08 Aug 2021)
  19. Genomic Medicine in Paediatrics: Are paediatricians prepared for the challenges, controversies and opportunities?, Royal College of Paediatrics and Child Health conference, Royal College of Paediatrics and Child Health  (International) (06 Mar 2021 - 07 Mar 2021)
  20. From Early and Newborn Screening to Data-Driven Rare Disease Policy, Asia-Pacific Economic Cooperation (APEC) Virtual Meeting on Rare Disease, Ministry of Health Malaysia (International) (16 Dec 2020 - 17 Dec 2020)
  21. Overview on Prader-Willi Syndrome, National Seminar on Prader-Willi Syndrome 2020, Prader-Willi Syndrome Association of Malaysia (National) (07 Nov 2020 - 08 Nov 2020)
  22. Treatable inherited diseases revisited, The 13th Asia-Pacific Conference on Human Genetics (APCHG), Asia-Pacific Society of Human Genetics (International) (07 Nov 2019 - 09 Nov 2019)
  23. Overview of Paediatric Genetics, Academy of Medicine of Malaysia Genomics workshop, College of Paediatrics AMM (National) (14 Oct 2019 - 15 Oct 2019)
  24. 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, Malaysia Paediatric Association and AOCCN (National) (19 Sep 2019 - 20 Sep 2019)
  25. Hereditary cardiomyopathy, Genetics of thalassaemia, Autism, 3rd UM-Chinese University of Hong Kong Certificate Course in Clinical Genetics and Genomics, Universiti Malaya and Chinese University of Hong Kong (International) (11 Sep 2019 - 13 Sep 2019)
  26. Achieving SDGs for Congenital Disorders in Asia: Opportunities and Challenges, The 15th Congress of Asia Society of Pediatric Research (ASPR), Asia Society of Pediatric Research and Indonesian Pediatric Society (International) (09 Sep 2019 - 10 Sep 2019)
  27. Ethical issues, genetic testing and screening in Paediatrics, Paediatric Dentistry Conference (CRiPD) 2019, UiTM (National) (07 Aug 2019 - 08 Aug 2019)
  28. Genetics of thalassaemia and inherited conditions, Myanmar Health Research conference, Department of Medical Research Myanmar (International) (07 Jan 2019 - 08 Jan 2019)
  29. Challenges in Interpretation of Genetic and Genomic Reports in the Clinic, Asia Pacific Society of Human Genetics (APSHG) Autumn School Singapore, Asia Pacific Society of Human Genetics (International) (31 Oct 2018 - 02 Nov 2018)
  30. Birth defects in developing countries: Challenges and opportunities, 12th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics (International) (08 Nov 2017 - 10 Nov 2017)
  31. Congenital skeletal abnormalities and respiratory insufficiency, Malaysian Thoracic Society Annual Congress 2017. 20 23rd July 2017. , Malaysian Thoracic Society (National) (20 Jul 2017 - 23 Jul 2017)
  32. 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., Baylor College of Medicine USA and Chinese University of Hong Kong (International) (20 May 2017 - 21 May 2017)
  33. Genetic counselling and prenatal diagnosis., Course on Clinical Management of Thalassaemia. 18th 19th May 2017. , Organized by UKM Medical Molecular Biology Institute (UMBI). (International) (18 May 2017 - 19 May 2017)
  34. Genetics in Autism, . Developmental Paediatrics Course 2017: Autism and Learning Issues. 5-6th May 2017. , Department of Paediatrics UM (National) (05 May 2017 - 06 May 2017)
  35. 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., Department of Health, Philippine and UP National Institutes of Health. (International) (22 Feb 2017 - 22 Feb 2017)
  36. 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, International Federation of Human Genetics (International) (01 Dec 2016 - 03 Dec 2016)
  37. Congenital Malformations: Are We Making Our Children Suffer? , Kuala Lumpur International Neonatology Conference, University of Malaya; Perinatal Society of Malaysia; College of Paediatrics- Academy of Medicine of Malaysia (International) (12 Nov 2015 - 14 Nov 2015)
  38. Genetic counselling and ethical issues, Clinical Management of thalassaemia 6th 7th August 2015 , UKM Molecular Biology Institute (UMBI) and Ministry of Health Malaysia (National) (06 Aug 2015 - 07 Aug 2015)
  39. Country Report on Inborn Errors of Metabolism Malaysia, The 4th Asian Congress for Inherited Metabolic Diseases (ACIMD2015). March 19-22, 2015 , Taiwan Genetics SOciety (International) (19 Mar 2015 - 22 Mar 2015)
  40. Personalized Medicine in Clinical Practice: Delivering on the Promise., Human Genome Meeting 2015 (HGM2015) , Human Genome Organisation (HUGO) (International) (14 Mar 2015 - 17 Mar 2015)
  41. Orphan Diseases: Integrated Approach to Diagnosis and Care, 15th ASEAN Pediatric Federation COngress, Malaysian Paediatric Association (International) (17 Sep 2014 - 20 Sep 2014)
  42. Genetic counseling and genetic testing in Malaysia in the genomics era., The 10th Malaysia Genetics Congress (MGC) , Genetics Society of Malaysia (National) (03 Dec 2013 - 05 Dec 2013)
  43. 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) , Asia-Pacific Society of Human Genetics and March of Dimes USA and Centers for Disease Control and Prevention (CDC USA) (International) (10 Nov 2013 - 13 Nov 2013)
  44. Genetic counselling and genetic testing in the genomics era. , The 8th International Conference on Genomics (ICG) , Beijing Genome Institute (International) (30 Oct 2013 - 01 Nov 2013)
  45. Effective & On Time Treatment Case Study Impact of genetic counselling towards patient care., The Second Malaysia Conference on Rare Disorders, Malaysia Rare Disorders Society, Malaysian Lysosomal Diseases Association, Malaysia Metabolic Society (National) (25 Oct 2013 - 26 Oct 2013)
  46. Genetics of Congenital Heart Diseases, Invited Speaker: Genetics of Congenital Heart Diseases. Postgraduate Cardiology course, Dewan Jemerlang, University of Malaya, 20th November 2012, Department of Paediatrics (National) (20 Nov 2012)
  47. 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., OMFS and Neurosurgery, University of Malaya (University) (20 Nov 2012 - 23 Nov 2012)
  48. 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., Asia Pacific Pediatric Association  (International) (08 Sep 2012 - 12 Sep 2012)
  49. 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, College of Paediatrics Academy of Medicine of Malaysia (National) (23 Jun 2012 - 24 Jun 2012)
  50. 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., National Early Childhood Intervention Council (NECIC) (International) (06 Jun 2012 - 09 Jun 2012)
  51. 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., UPM Medical and Health Science Faculty (University) (31 May 2012 - 31 May 2012)
  52. 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, Asia Pacific Society of Human Genetics (International) (30 Nov 2010 - 03 Dec 2010)
  53. Genetic Counselling in the Multi-Ethnic Asian Populations: Pitfalls and Challenges., The 9th Asia-Pacific Conference on Human Genetics. 30th Nov -3rd Dec 2010 , Asia-Pacific Society of Human Genetics (International) (30 Nov 2010 - 03 Dec 2010)
  54. 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,, Asian Society for Inherited Metabolic Diseases (International) (20 Oct 2010 - 23 Oct 2010)
  55. Citrin Deficiency in Malaysian Children: Clinical & Laboratory Presentation and Outcome., The First Asian Congress for Inherited Metabolic Diseases (ACIMD). , Asian Society for Inherited Metabolic Diseases (International) (01 Jul 2010 - 09 Jul 2010)
  56. Genetic Screening: An Overview, The 5th Malaysian Conference on Healthy Ageing , The Malaysian Healthy Ageing Society and UPM  (National) (27 May 2010 - 29 May 2010)
  57. Thalassaemia Screening Programme: The Malaysian Experience, 4th International Conference on Birth Defects & Disabilities (ICBDD), , International Conference on Birth Defects & Disabilities (ICBDD),  (International) (01 Mar 2009 - 03 Mar 2009)
  58. The Paediatrician's Role in Prevention of Genetic Disorders., The 13th Asian Pacific Congress of Pediatrics , Asia Pacific Pediatric Association (International) (01 Mar 2009 - 03 Mar 2009)
  59. Spectrum of Metabolic Disorders in Malaysia., 6th Asia Pacific Regional Meeting of the International Society for Newborn Screening , International Society for Neonatal Screening (International) (01 Mar 2007 - 03 Mar 2007)
EVENT ORGANISER
  1. 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., Faculty of Medicine UM (International) (11 Jul 2017 - 13 Jul 2017)
  2. Citrin Deficiency: Reflections on a Pan-Ethnic Disorder and the Way Forward. , 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics (International) (05 Dec 2012 - 08 Dec 2012)
  3. Rare Disorders and Basic Genetics 101., The First Malaysia Conference on Rare Disorders and Medical Genetics Conference 2011, 9-10th June 2011, , Malaysian Rare Disorders Society and Medical Genetics Society of Malaysia (National) (09 Jun 2011 - 10 Jun 2011)
ORAL PRESENTER
  1. ENTRUSTABLE PROFESSIONAL ACTIVITIES AS AN ASSESSMENT TOOL FOR ENTRY INTO A MALAYSIAN NATIONAL PAEDIATRIC POSTGRADUATE TRAINING PROGRAMME: A FEASIBILITY AND BENCHMARKING STUDY, Asia Pacific Medical Education Conference (APMEC) 2022, National university of Singapore and Universiti Malaya (International) (12 Jan 2022 - 16 Jan 2022)
  2. First Prize Winner: Inpatient Healthcare service utilisation of children with congenital anomalies, 11th National Paediatric Research Conference, International Medical University and College of Paediatrics Academy of Medicine of Malaysia (International) (19 Nov 2021 - 21 Nov 2021)
  3. Impact of COVID-19 Pandemic on Genetic Services across Asia, World Congress of Genetic Counselling, Wellcome Connecting Science (International) (27 Oct 2021 - 28 Oct 2021)
  4. 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, ADeC  (International) (25 Apr 2019 - 25 Apr 2019)
  5. Acute Metabolic Crisis., Academy of Medicine 50th Year Golden Jubilee celebration in conjunction with the 3rd AMM-AMS-HKAM Tripartitie Congress, Academy of Medicine Malaysia (International) (01 Dec 2016 - 03 Dec 2016)
  6. Treatment-focused genetic testing (TFGT) is it too soon for Malaysia?, 11th Asia-Pacific Conference on Human Genetics (International) (16 Sep 2015 - 18 Sep 2015)
  7. BRCA1 & BRCA2 mutations in Malaysian breast cancer patients., 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics (International) (05 Dec 2012 - 08 Dec 2012)
  8. Congenital Anomalies 2007, National Conference for Clinical Research 2009, Ministry of Health Malaysia (National) (01 Mar 2009 - 03 Mar 2009)
  9. Wireless Intelligent Incontinence Management System using Smart Diapers, ECTI-CON 2008, ECT-CON (National) (01 Mar 2008 - 05 Mar 2008)
  10. Birth Defects Register: Uses and Limitations., Joint Symposium on Medical Genetics, APSHG (International) (01 Mar 2006 - 03 Mar 2006)
  11. 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, University of Malaya (International) (01 Mar 2005 - 04 Mar 2005)
  12. Preimplantation Genetic Diagnosis and Controversies, Federation of Asian and Oceanian Perinatal Societies conference, Federation of Asian and Oceanian Perinatal Societies (International) (01 Mar 2004 - 04 Mar 2004)
  13. Breast-feeding is possible even if mother and baby have phenylketonuria., ICIEM 2000, SSIEM (International) (03 Sep 2000 - 06 Sep 2000)
POSTER PRESENTER
  1. Ethical issues related to gene therapy with onasemnogene abeparvovec for spinal muscularatrophy type 1 in a developing country, 2022 ACMG Annual Clinical Genetics Meeting, American College of Medical Genetics and Genomics (International) (22 Mar 2022 - 26 Mar 2022)
  2. First day urine of discordant monozygotic twin reflected fetal metabolic programming in metabolomics study., Annual Meeting of the Amarican Society of Human Genetics 2016, American Society of Human Genetics (International) (01 Dec 2016 - 03 Dec 2016)
  3. Comparative metabolomic analyses in term and preterm Malaysian infants., 11th Asia-Pacific Conference on Human Genetics (International) (16 Sep 2015 - 18 Sep 2015)
  4. Berardinelli-Seip congenital lipodystrophy and its diagnostic implications., 11th Asia-Pacific Conference on Human Genetics (International) (16 Sep 2015 - 18 Dec 2015)
  5. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance., 11th Asia-Pacific Conference on Human Genetics (International) (16 Sep 2015 - 18 Sep 2015)
  6. L-2-Hydroxyglutaric aciduria: a case report., American Association of Clinical Chemistry 2015 Annual Meeting, American Association of Clinical Chemistry (International) (16 Jul 2015 - 18 Jul 2015)
  7. 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, American Society of Human Genetics (International) (18 Oct 2014 - 22 Oct 2014)
  8. Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type one patients, 64th American Society of Human Genetics Annual Meeting, American Society of Human Genetics (International) (18 Oct 2014 - 22 Oct 2014)
  9. Deregulation of specific microRNAs in whole blood and skeletal muscle of Myotonic Dystrophy type patients., 64th American Society of Human Genetics annual scientific meeting, American Society of Human Genetics  (International) (18 Oct 2014 - 21 Oct 2015)
  10. 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 (International) (18 Oct 2014 - 21 Oct 2014)
  11. Methylation status in Malaysian children with Beckwith-Wiedemann Syndrome and Russell-Silver Syndrome. , University of Malaya Researchers Conference 2013.(UMRC2013) 19-20th November 2013,, University of Malaya (University) (19 Nov 2013 - 20 Nov 2013)
  12. 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), UKM UMBI (International) (08 Nov 2013 - 10 Nov 2013)
  13. Genetic Analyses of Myotonic Dystrophy Type 1 in Malaysia., 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics (International) (05 Dec 2012 - 08 Dec 2012)
  14. Classical Galactosemia with GALT mutations in a Malaysian female: a 14-year follow-up., 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics (International) (05 Dec 2012 - 08 Dec 2012)
  15. A Review of Genetic Counselling Service in 2005 and 2011 at the University of Malaya Medical Centre., 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics (International) (05 Dec 2012 - 08 Dec 2012)
  16. Genetic mutations in dysferlinopathy in a Malaysian population, 15th International Congress of the World Muscle Society  (International) (12 Oct 2010 - 16 Oct 2010)
  17. Genetic mutations in sarcoglycanopathies in a Malaysian population., 15th International Congress of the World Muscle Society (International) (12 Oct 2010 - 16 Oct 2010)
  18. The Molecular Diagnosis of Myotonic Dystrophy in Malaysia., The 11th International Child Neurology Congress (ICNC 2010), International Child Neurology Congress (International) (01 Jul 2010)
PRESENTER
  1. Clinical utility and limitations of genetic and genomic testing., Medical Genetics Seminar Medical Genetics Society of Malaysia, Medical Genetics Society of Malaysia (National) (31 Oct 2018 - 01 Nov 2018)
  2. Hereditary cardiomyopathy and arrythmia, 2nd UM-CUHK Certificate Course in Clinical Genetics and Genomics, UM-CUHK (National) (12 Sep 2018 - 14 Sep 2018)
  3. Thalassaemia, hereditary cardiomyopathy, syndrome, First UM-CUHK Certificate Course in Clinical Genetics and Genomics in conjunction with Paediatric Research Week 2017., UM and CUHK (International) (11 Jul 2017 - 13 Jul 2017)

ACADEMIC/PROF. SERVICES


Evaluation
  1. (2023) Member of Advisory Board, Cell and Gene Therapy Subspeciality, Drug Control Authority, Ministry of Health Malaysia, National, (External Evaluator)
  2. (2023) Penilai dan Ahli Jawatankuasa Pengajian Program Master Perubatan (Pediatrik) Fakulti Perubatan dan Sains Kesihatan Universiti Putra Malaysia, National, (External Evaluator)
  3. (2023) Projek Dana Penyelidikan dan Pembangunan (R&D) Kementerian Sains, Teknologi dan Inovasi (Mosti), National, (External Assessor)
  4. (2022) Reviewer of Manuscript, International, (Reviewer)
  5. (2022) Unsw Thesis External Examiner : Identifying Mosaic Genetic Variants in Tuberous Sclerosis Complex, International, (External Examiner)
  6. (2022) The 2022 Mahathir Science Award (Msa) Evaluation Committee for Tropical Medicine by Academy of Sciences Malaysia, National, (Internal Evaluator)
  7. (2022) Reviewer of Manuscript for Publication, International, (Reviewer)
  8. (2022) Mygrant Evalutator for Frgs and Trgs Proposals, National, (External Evaluator)
  9. (2022) Reviewer of Manuscript, International, (Reviewer)
  10. (2022) Reviewer of Manuscript, International, (Reviewer)
  11. (2022) Task Force Bagi Penambahbaikan Standard Academic Performance Target dan Sistem Permohonan Kenaikan Pangkat Akademik UM, University, (Internal Assessor)
  12. (2022) Pihak Berkuasa Kawalan Dadah (Pbkd), National, (External Evaluator)
  13. (2022) Jawatankuasa Credentialing and Privileging Ppum, University, (Internal Assessor)
  14. (2022) Ummc Subspecialty Training / Fellowship Program, University, (Internal Assessor)
  15. (2021) Reviewer Manuscript "Leg Ulcers: a Report in Patients With Hemoglobin E Beta Thalassemia and Review of The Literature in Severe Beta Thalassemia", International, (Reviewer)
  16. (2021) Reviewer of Manuscript "Clinical Lesson Learned from Geneticanalysis in Patients Prior to Surgical Repair of Hypospadias" for Asian Journal of Urology, International, (Reviewer)
  17. (2021) Umsc C.a.R.E. Fund Research Grant 2021, University, (Internal Evaluator)
  18. (2021) Penilaian Permohonan Skim Geran Penyelidikan Fundamental Frgs Fasa 1 2021, National, (External Evaluator)
  19. (2021) Reviewer for Bmc Pediatrics "Report of Siblings With B4galt7 Deficiency Further Expanding The Clinical Spectrum, International, (Reviewer)
  20. (2021) Evaluator for Geran Universiti Malaya Learning Improvement and Teaching Enhancement Research (UM- Liter) 2021, University, (Internal Evaluator)
  21. (2021) Reviewer of Manuscript Frontiers in Paediatrics "Genetic Analysis Andoutcomes in Children With Developmental Language Disorder", International, (Reviewer)
  22. (2021) Invited as External Evaluator for Grants Assessment Committee, Medical Research Future Fund, National Health and Medical Research Council Australia, International, (External Evaluator)
  23. (2021) Ahli Jawatankuasa Tetap "Proposal Defence" Calon Ijazah Tinggi, University, (Internal Evaluator)
  24. (2021) Selection of Medical Officers to Ummc, University, (Internal Assessor)
  25. (2020) External Professional Clinical Examination for MBBS degree for International Medical University, (External Examiner)
  26. (2020) Appointed as External Examiner by Universiti Kebangsaan Malaysia for Final MD Professional Clinical Examination from 7th -10th December 2020, (External Examiner)
  27. (2020) 2020 MAKNA Cancer Research Award, (Reviewer)
  28. (2020) 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 , (Reviewer)
  29. (2019) Ahli Panel Penilai Skim Geran Penyelidikan Fundamental (FRGS) untuk Fasa 1/2019 Peringkat Institut Pengurusan dan Pemantauan Penyelidikan (IPPP), (Reviewer)
  30. (2019) Reviewer for Journal of Paediatrics and Child Health, (Reviewer)
  31. (2019) Scientific committee member for 14th International Congress of Human Genetics, (Scientific Committee)
  32. (2019) External Clinical Examiner in Paediatrics, Medical Doctor Programme Third Professional Examination, Universiti Putra Malaysia 1st 4th July 2019, (External Examiner)
  33. (2019) Appointment to the Selection Panel of the Top Research Scientist Malaysia (TRSM) 2019 by the Academy of Science Malaysia 23 Oct 2019 , (Reviewer)
  34. (2019) Appointment to Academy of Science Malaysia MAKNA Cancer Research award 2018 selection committee 19 Nov 2019, (Reviewer)
  35. (2019) Reviewer for Journal of Paediatrics and Child Health, (Reviewer)
  36. (2018) Reviewer of journal article in PLOS One, (Reviewer)
  37. (2018) Reviewer for the American Journal of Medical Genetics, (Reviewer)
  38. (2018) External Clinical Examiner in Paediatrics, End of Rotation 4, Perdana University Royal College of Surgeon in Ireland (PU_RCSI) 4th April 2018 Seremban Hospital , (External Examiner)
  39. (2017) External Clinical Examiner in Paediatrics, Medical Doctor Programme Third Professional Examination, Universiti Putra Malaysia 17th 20th July 2017 , (External Examiner)
  40. (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)
  41. (2015) Co-chairman for the Organizing Committee, Kuala Lumpur International Neonatology Conference (KLINC 2015), (Scientific Committee)
  42. (2015) Reviewer for 3 journal articles in Neurology Asia - an ISI-cited journal, (Reviewer)
  43. (2015) Editorial Board member, Journal of Pediatric and Neonatal Individualized Medicine, (Editor)
  44. (2015) Associate Editor, Applied and Translational Genomics journa, (Editor)
  45. (2015) External Examiner for Paediatrics Clinical Examination International Medical University 2015 , (External Examiner)
  46. (2015) External Examiner for Paediatrics Clinical Examination Penang Medical College (Supplementary), (External Examiner)
  47. (2015) University of Sydney PhD thesis External examiner on the topic "Use of High Throughput Genomic Screening Technologies for Gene Discovery in Mendelian Disorders" , (External Examiner)
  48. (2015) Associate Editor, Frontiers of Pediatrics, (Editor)
  49. (2014) Interview by The Star on the issue of Congenital abnormalities the main killer of infants published on the 12th December 2014 .
  50. (2014) External Examiner Paediatric Undergraduate Modular Examination 31st October 2014 and supplementary examination 18th November 2014 Penang Medical College, Penang. , (External Examiner)
  51. (2014) External Examiner Final Fellowship Examination (FCPS Part II Clinical and Viva-Voce) of Bangladesh College of Physicians and Surgeons (BCPS) in Paediatrics 12-14th July 2014, Dhaka, Bangladesh. , (External Examiner)
  52. (2014) Reviewer for European Journal of Pediatrics - an ISI-cited journal, (Reviewer)
  53. (2014) Associate Editor Frontiers in Pediatrics: Genetics, (Reviewer)
  54. (2014) Reviewer for Annals of the Academy of Medicine, Singapore - an ISI-cited journal, (Reviewer)
  55. (2014) Associate Editor, Applied and Translational Genomics journal, (Editor)
  56. (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
  57. (2014) Reviewer for Neurology Asia - ISI cited journal , (Reviewer)
  58. (2013) External Examiner, Year 4 MBBS Examination UCSI University 21st 23rd June 2013, Kuala Terengganu, (External Examiner)
  59. (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 , (External Examiner)
  60. (2013) Invitation to be Associate Editor of the journal "Frontiers in Pediatrics and Genetics" , (Editor)
  61. (2013) Reviewer for Neurology Asia, (Reviewer)
  62. (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, (Reviewer)
  63. (2013) Reviewer manuscript Annals of Academy of Medicine Singapore, (Reviewer)
  64. (2012) Journal of ASEAN Federation of Endocrine Societies 2012 , (Reviewer)
  65. (2012) Editorial Board member, Journal of Pediatric and Neonatal Individualized Medicine , (Editor)
  66. (2012) Reviewer for journal Gene , (Reviewer)
Contribution to external organisation
  1. (2023) Medical Specialist Cpd System Reviewer, National, (Technical Advisor)
  2. (2022) Member of National Paediatric Conjoined Committee, National, (Expert Advisor)
  3. (2022) National Paediatrics Conjoined Committee, National, (Resource Person)
  4. (2021) Judge to 14th Malaysia International Genetic Congress, National, (Resource Person)
  5. (2020) Personalized Genomic Research: Congenital Malformations, National Human Genome Research Institute, International
  6. (2020) Appointed member of the Working Committee. Malaysian Orphan Medicines Guidelines (2020). The Pharmaceutical Services Programme Ministry of Health Malaysia 2018 MOH/S/FAR/24.20(GU)-e , Ministry of Health Malaysia
  7. (2020) Committee to review guidelines on Medical Genetics and Genetics Services. , Malaysian Medical Council
  8. (2019) The inaugural First Genetic Counselling Workshop in Malaysia, University of Malaya Medical Centre, Genetic Counselling Society of Malaysia
  9. (2018) Memorandum of Agreement, University of Malaya and Institute for Democracy and Economic Affairs (IDEAS), National
  10. (2018) Policy development on Rare Diseases in Malaysia, University of Malaya and Institute for Democracy and Economic Affairs (IDEAS)
  11. (2017) 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, International
  12. (2017) Research Collaboration "Exome sequencing and analysis on patients with undiagnosed diseases and their parents", Keio University Japan, International
  13. (2017) Chairman, Organizing Committee, 1st UM-CUHK Certificate Course in Clinical Genetics and Genomics, University of Malaya and Chinese University of Hong Kong
  14. (2016) National Curriculum Writing Project for Master of Medicine, National Curriculum Project
  15. (2015) Research Collaboration and Internship with University of California Irvine and University of Malaya, University of California, Irvine, International
  16. (2015) Co-Chairman, Kuala Lumpur International Neonatology Conference (KLINC) 2015, University of Malaya, Perinatal Society of Malaysia, College of Paediatrics - Academy of Medicine of Malaysia
  17. (2015) International Society of Neonatal Screening - Asia Pacific Regional Meeting , International Society of Neonatal Screening, Universiti Sains Malaysia
  18. (2010) Chairman, Organising Committee, 10th Asia-Pacific Conference on Human Genetics, Asia-Pacific Society of Human Genetics
Media appearance
  1. (2022) Tv3 Malaysia Hari Ini "Santuni Anak Albino", National, (Interview)
  2. (2022) Wawancara Di Kosmo! Berkenaan 'Perwrisan Genetik', National, (Interview)
Mentoring
  1. (2022) Trainer for The Course Akri2022 @ UM: Briefing and Sharing Session, University, (Mentor)

SUPERVISION


Postgraduate Student
PhD/ Doctoral
  1. (2016) Targeted and Untargeted Metabolomics Analysis in Sick and Healty Neonates: A Novel Strategy In Personalised Medicine, RENUGA DEVI A/P MUTHUKANOO
Master
  1. (2021) Genetic Counselling, On Jia Wen (Pusat Perubatan Universiti Kebangsaan Malaysia (Ppukm))
  2. (2021) Clinical Genetics, Dr Wan Norizzati (Universiti Sains Malaysia (USM))
  3. (2020) Study on birth defects in UMMC, Avinder Kaur
  4. (2020) Pending exam, Dr Amirah bt Ismail
  5. (2020) Palliative care, Dr Anita Vallimalar Suppiah
  6. (2020) Inherited disorders, Dr Hanisah bt Ishak
  7. (2016) Study Of Uniparental Disomy (UPD) And Genomic Imprinting Among Patients With Beckwith-Wiedemann Syndrome And Russell-Silver Syndrome In Malaysia, THURGA A/P KRISHNAN
  8. (2016) Marfan syndrome in Malaysian children: Clinical features and outcome of medical therapy, Dr Anusha Palakrishnan
  9. (2015) Profile of Malaysian adolescents with multiple victimization in a clinical sample, Dr Khoo Wee Vien
  10. (2014) Association between birthweight and cardiovascular risk factors amongst adolescents in Malaysia, Dr Zuraini bt Sulaiman
  11. (2013) Molecular detection of normal and expanded CTG alleles, and microRNA expression aberration in myotonic dystrophy type 1, KATHLIN KAMINIY AMBROSE MICHAEL
  12. (2013) A STUDY ON THE OUTCOME OF PATIENTS WITH DOWN SYNDROME WITH CONGENITAL HEART DISEASE, HASLIZA BINTI A RAZAK
  13. (2012) Prevalence, risk factors and outcomes of VLBW infants with extended spectrum beta lactamases (ESBL) infection and colonisation in NICU UMMC, Dr Nurul Azween
  14. (2010) Screening for critical congenital heart diseases in newborns, Dr Vida Jawin
  15. (2010) PULSE OXIMETRY AS A SCREENING TEST FOR CRITICAL CONGENITAL HEART DISEASE IN NEWBORNS, VIDA JAWIN
  16. (2009) Immune thrombocytopenic purpura, Dr Foo Hee Wei
  17. (2009) A 12-YEAR RETROSPECTIVE AUDIT OF CHILDHOOD IMMUNE THROMBOCYTOPENIA AT A SINGLE ACADEMIC CENTRE IN MALAYSIA: 2001-2012., Foo Hee Wei
  18. (2008) Parental perception of the quality of life of children with Down syndrome, Dr Ainur Fadzlina bt Ahmad Fuad
  19. (2008) PAED-A PAEDIATRIC DRUG PRESCRIPTION AND INVENTORY SYSTEM, TIN YEO GAIK LING
  20. (2008) BIOCHEMICAL PROFILING OF HEREDITARY DISORDERS OF PURINE AND PYRIMIDINE METABOLISM, CHEN BEE CHIN
  21. (2008) Biochemical profile of disorders of purine and pyrimidine disorders in Malaysian children, Chen Bee Chin
  22. (2007) PARENTAL PERCEPTION ON THE QUALITY OF LIFE FOR CHILDREN WITH DOWN SYNDROME., Ainur Fadzlina Binti Ahmad Fuad
  23. (2006) Rickets of Prematurity, Dr Revathi a/p Rajagopal
  24. (2006) A Study of Children With Developmental Delay and Mental Retardation at UMMC Genetics Clinic, Dr Ng Ruey Terng
  25. (2006) A COMPUTER-AIDED SYSTEM FOR THE RECORDING OF HEREDITARY DISEASES AND ANALYSIS OF GENETIC RISKS, WONG VOON FUI
  26. (2005) Prevalence and Risk Factors for Birth Defects in Patients admitted to the University of Malaya Medical Centre - a hospital-based study, Dr Ang Hak Lee
  27. (2005) EVALUATING HER-2/NEU GENE AMPLIFICATION BY FLUORESCENCE IN SITU HYBRIDZATION IN RECURRENT AND METASTIC BREAST CANCER FROM MALAYSIAN PATIENTS, NAM HUI YIN
  28. (2005) DENATURING HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY ANALYSIS OF MECP2 GENE IN MALAYSIAN PATIENTS WITH RETT SYNDROME, FONG CHENG BOON
  29. (2004) Denaturing High-Performance Liquid Chromatography Of MECP2 Gene In Malaysian Patients With Rett Syndrome., Fong Cheng Boon
  30. (2000) Neonatal speticaemia, Dr Mehala Baskaran

TEACHING


Master
  1. (2022) MSL27100 - Master of Paediatrics Y1
  2. (2022) MSL27200 - Master of Paediatrics Y2
  3. (2022) MSL27300 - Master of Paediatrics Y3 and 4
  4. (2021) - - -
Bachelor
  1. (2022) UMMP2801 - Stage 2 Block 8
  2. (2022) UMMP1201 - Ummp Foundation Block
  3. (2022) UMMP3119 - Ummp Stage 3.1
  4. (2022) UMMP3303 - Ummp Stage 3.3
  5. (2022) MIC3009 - Ethical Practices in Biomedical Science
  6. (2021) MIC3009 - Ethical Practices in Biomedical Science
  7. (2021) UMMP - Universiti Malaya Medical Programme
  8. (2019) MIC3009 - Ethical Practices in Biomedical Science
  9. (2019) UMMP - Stage 1
  10. (2019) UMMP - Stage 2
  11. (2019) UMMP - Stage 3.1
  12. (2019) UMMP 3.2 - MBBS
  13. (2016) MBEB3106 - Ethics in Biomedicine
  14. (2013) UMMP - Stage 1
  15. (2012) MBBS - Phase 2
  16. (2011) MBEB3105 - Applications and Advances in Molecular Biology
Others
  1. (2012) Graduate Diploma in Genetic Counselling

SOCIAL RESPONSIBILITY ACTIVITIES


  • 3rd Malaysian Society for Stem Cell Research and Therapy (Mscrt) Stem Cell Symposium 2022, (04 Jul 2022 - 06 Jul 2022) (National)
  • Health Systems Roundtable for Ministry of Health White Paper 2 July, (02 Jul 2022 - 02 Jul 2022) (National)
  • Panel Reviewer for Umsc Ca.R.E Fund (Research Grant) Cycle 1/2022, (01 Jun 2022 - 01 Jul 2022) (University)
  • Panellist On Bolehspace Hari Penyakit Jarang Jumpa 2022, (26 Feb 2022 - 26 Feb 2022) (National)
  • Bengkel Jawatankuasa Penyakit Jarang Jumpa Kebangsaan Bagi Membincangkan Penilaian Rawatan Untuk Golongan Penyakit Jarang Jumpa Berdasarkan "Multiple Criteria Decision Analysis" 8-10th February 2022, (08 Feb 2022 - 10 Feb 2022) (National)
  • Bernama Tv Interview On 'The Nation' Program, (27 Jan 2022 - 27 Jan 2022) (National)
  • Specialty Subcommittee for Education (Ssc-Edu) for General Paediatrics, Medical Education Committee, Medical Council of Malaysia (Majlis Perubatan Malaysia (Mpm), (21 Jan 2022 - 20 Jan 2024) (National)
  • Reviewing Manuscript # Bmjgh-2021-007780.R1 Entitled "Global Impact of Covid-19 Onnewborn Screening Programs" for Bmj Global Health., (17 Jan 2022 - 17 Jan 2022) (International)
  • Radio Interview Bfm On Rare Disease Day, (25 Mar 2021 - 25 Mar 2021) (National)
  • Interview On Bernama Tv On The Topic of Rare Diseases, (28 Feb 2021 - 28 Feb 2021) (National)
  • President College of Paediatrics, Academy of Medicine of Malaysia, (01 Jan 2021 - 31 Dec 2021) (National)
  • Perkhidmatan Menangani Pandemik Covid-19, (01 Jan 2021 - 31 Dec 2021) (University)
  • Appointed Member. Committee to Review Guidelines On Medical Genetics and Genetics Services. Appointed On The 27th Feb 2020. Malaysian Medical Council 2020., (27 Jan 2020 - 26 Feb 2021)
  • Appointment by The Malaysian Medical Council (Mmc) to Be a Member of The Specialty Education Subcommittee in General Paediatrics 2020-2022., (01 Jan 2020 - 31 Dec 2022)
  • Appointment by The Faculty of Medicine UM to Be a Member of The Seminar Proposal Defence for Postgradautes from 2020 – 2022, (01 Jan 2020 - 31 Dec 2022)
  • Appointed to 2020 Makna 2020 Cancer Research Award Panel, (01 Jan 2020 - 31 Dec 2020)
  • Appointment as Peer Reviewer for 2020 Dr Ranjeet Bhagwan Singh Research Grant Applications, (01 Jan 2020 - 31 Dec 2020)
  • Radio Interview On Bfm Station On The 9th May 2019 On The Topic of G-6-Pd Deficiency, (09 May 2019 - 09 May 2019)
  • Dilantik Oleh Kementerian Kesihatan Malaysia Sebagai Ahli Jawatankuasa Penyakit Jarang Jumpa Kebangsaan, (01 May 2019 - 30 Apr 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, (25 Feb 2019 - 25 Feb 2019)
  • Appointment by Academy of Sciences Malaysia to The 2019 Selection Panel for Top Research Scientists Malaysia (Trsm), (01 Jan 2019 - 31 Dec 2019)
  • Council Member Persatuan Genetik Malaysia, (01 Jan 2019 - 31 Dec 2021) (National)
  • Appointment as a Member by The Academy of Sciences Malaysia to The Task Force On The Precision Medicine Initiative Malaysia, (01 Sep 2018 - 31 Mar 2020)
  • Appointed Member of The Working Committee. Malaysian Orphan Medicines Guidelines (2020). The Pharmaceutical Services Programme Ministry of Health Malaysia 2018 Moh/S/Far/24.20(Gu)-E, (02 Jul 2018 - 31 Dec 2020)
  • Co-Chairman, Organizing Committee, Kuala Lumpur International Neonatology Conference 2017, (23 Nov 2017 - 25 Nov 2017)
  • Advisory Committee Member, 2nd Genetic Counseling Workshop, Bangkok Thailand, (08 Nov 2017 - 08 Nov 2017)
  • International Advisory Board Member, 12th Asia-Pacific Conference On Human Genetics Bangkok Thailand 2017, (08 Nov 2017 - 10 Nov 2017)
  • Co-Organizer, Congress Workshop On Clinical Ethics and Ethics Consultation, Asian Congress On Paediatric Nephrology and 39th Malaysian Paediatrics Association Annual Congress, (05 Oct 2017 - 07 Oct 2017)
  • President College of Paediatrics, Academy of Medicine of Malaysia, (30 Jun 2017 - 01 Jul 2018)
  • Trustee of Rare Disease Alliance Foundation of Malaysia, (31 May 2017 - 31 Dec 2022) (National)
  • Appointed Member, Board of Trustees, Rare Disease Alliance Foundation Malaysia, (31 May 2017 - 30 Jun 2021)
  • Invitation to Speak to UM Undergraduate Students for The Genetics and Molecular Biology Seminar Series 2016/2017 Organized by The UM Genetics Club 2017., (12 May 2017 - 12 May 2017)
  • Interview by Radio Station Bfm 89.9 Health and Living On The Topic "World Down Syndrome Day", (06 Apr 2017 - 06 Apr 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., (25 Sep 2016 - 25 Sep 2016)
  • Reviewer for The Journal Bmc Pediatrics, (24 Aug 2016 - 24 Aug 2016)
  • Reviewer for The Malaysian Journal of Pathology, (07 Aug 2016 - 07 Aug 2016)
  • Reviewer for The Journal "Annals of The Academy of Medicine, Singapore", (07 Jan 2016 - 07 Jan 2016)
  • Interview by The Star Newspaper On The Disease "Osteogenesis Imperfecta" 3rd Jan 2016, (03 Jan 2016 - 03 Jan 2016)
  • Ahli Jawatankuasa Kerja Registri Talasemia Program Kawalan dan Pencegahan Talasemia Kebangsaan, (01 Jan 2016 - 01 Jan 2019)
  • Associate Editor, Frontiers in Genetics, (01 Jan 2016 - 31 Dec 2017)
  • Interview by Media Harian Metro On "Rare Disease", (27 Jul 2015 - 27 Jul 2015)
  • Executive Committee Member, Genetics Society of Malaysia, (19 Mar 2015 - 30 Dec 2017)
  • Member, Executive Board of The International Federation of Human Genetics Societies, (01 Jan 2015 - 31 Dec 2017)
  • Interview by National Newspaper "The Star" On 'Congenital Abnormalities The Main Killer of Infants', (12 Dec 2014 - 12 Dec 2014)
  • Interviu Oleh Media Utusan Malaysia Berkenaan "Bantu Kesan Kanser: Ujian Genetik Awal Boleh Bantu Selamatkan Individu Yang Terlibat", (25 Nov 2014 - 25 Nov 2014)
  • Vice President, Medical Genetics Society of Malaysia, (27 Jun 2014 - 01 Oct 2018)
  • President, Asia-Pacific Society of Human Genetics, (10 Dec 2012 - 18 Sep 2015)
  • Appointed Member, National Credentialling Committee for General Paediatrics and Clinical Genetics, (04 Jan 2010 - 31 Dec 2015)
  • Appointed Member, National Committee for Enzyme Replacement Therapy, (01 Jan 2010 - 31 Dec 2012)
  • Advisor to Malaysian Rare Disorders Society, (01 Jan 2007 - 31 Dec 2022) (National)

COURSE ATTENDED


External Course
INTERNATIONAL
  1. International Symposium on Human Genetics 2021, South Africa (09 Mar 2021 - 10 Mar 2021)
  2. MPA-Cochrane Malaysia: Using Cochrane Evidence in Paediatric Practice , Penang (22 Apr 2021 - 22 Apr 2021)
  3. Medical Education Conference 2021, Hong Kong (22 May 2021 - 22 May 2021)
  4. 5th International BRCA Virtual Forum, Singapore (13 Aug 2021 - 13 Aug 2021)
NATIONAL
  1. 20th Malaysia Society of Allergy and Immunology Congress, Kuala Lumpur (03 Apr 2021 - 04 Apr 2021)
  2. Basic Introduction of Next Generation Sequencing, Kuala Lumpur (05 May 2021 - 05 May 2021)
  3. Beginner's Guide to CRISPR-Cas9, Selangor (02 Jun 2021 - 02 Jun 2021)
  4. ETHICAL & REGULATORY ASPECTS IN STEM CELL RESEARCH & THERAPY, Ummc (23 Jul 2021 - 23 Jul 2021)