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Samuel S. Chong CV May 8, 2023

Samuel S. Chong, PhD, FACMGDepartment of PediatricsYong Loo Lin School of MedicineNational University of SingaporeLevel 12, NUHS Tower Block1E Kent Ridge Road, Singapore 119228, SINGAPORE65-6772-4152 (phone), 65-6779-7486 (fax), [email protected]

CURRENT APPOINTMENTSAssociate Professor, Department of Pediatrics, Yong Loo Lin School of Medicine, National University of

Singapore, SINGAPORE. Since 2003Director, Preimplantation Genetic Diagnosis Center, National University Hospital, SINGAPORE. Since 2006Scientific Advisor, Molecular Diagnosis Center and Clinical Cytogenetics Service, National University Hospital,

SINGAPORE. Since 1999

EDUCATIONBSc (Hons) in Biology/Zoology (6/82 – 6/86) National University of Singapore, SINGAPORE.MSc in Zoology (7/86 – 12/88) University of British Columbia, Vancouver, CANADA.PhD in Molecular & Human Genetics (1/89 – 2/94) Baylor College of Medicine, Houston, TX, USA.

FURTHER TRAININGPostdoctoral Training in Molecular & Human Genetics (3/94 – 7/94) Baylor College of Medicine, Houston, TX.Postdoctoral Training in Human Genome Research (8/94 – 6/96) National Human Genome Research

Institute, NIH, Bethesda, MD.Short Course in Medical & Experimental Mammalian Genetics (7/95) The Jackson Laboratory, Bar Harbor,

ME.Postdoctoral Training in Pediatric Genetics (7/96 – 12/96) Johns Hopkins University School of Medicine,

Baltimore, MD.Fellowship Training in Clinical Molecular Genetics & Clinical Cytogenetics (8/94 – 9/97) Metropolitan

Washington D.C. Medical Genetics Fellowship Program (NIH/Children's National Medical Center/Georgetown University Medical Center).

PROFESSIONAL QUALIFICATIONSDipABMG Diplomate, American Board of Medical Genetics (Member Board of the American Board of

Medical Specialties) 7/99FACMG Fellow, American College of Medical Genetics (Member, Council of Medical Specialty

Societies; Member, House of Delegates, the American Medical Association) 5/00

JOURNAL EDITORIAL BOARDS2010 – present BMC Medical Genetics (http://www.biomedcentral.com/bmcmedgenet/edboard/)2009 – present Journal of Chinese Clinical Medicine (http://www.cjmed.net/editors)2009 – present Open Journal of Genomics (http://www.rossscience.org/ojgen/editorialboard.htm)

MEMBERSHIP IN PROFESSIONAL SOCIETIES2010 – present Human Genetics Society of Australasia2010 – present Society of Chinese Bioscientists in America2008 – present Asia Pacific Society of Human Genetics2000 – present American College of Medical Genetics1998 – present American Society of Human Genetics2001 – 2003 Singapore Society for Microbiology and Biotechnology2000 – 2003 Singapore Society for Biochemistry and Molecular Biology1998 – 2003 American Society for Reproductive Medicine

PAST APPOINTMENTS

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Teaching Assistant (6/85 – 6/86) Department of Zoology, National University of Singapore, SINGAPORE.Fellow, Canadian International Development Agency (CIDA) (7/86 – 12/88) B. C. Cancer Research Center and

Department of Zoology, University of British Columbia, Vancouver, CANADA.Research Assistant (1/89 – 2/94) Department of Molecular and Human Genetics, Baylor College of Medicine,

Houston, Texas, USA.Research Associate (3/94 – 7/94) Department of Molecular and Human Genetics, Baylor College of Medicine,

Houston, Texas, USA.Visiting Fellow (8/94 – 6/96) Diagnostic Development Branch, National Human Genome Research Institute,

NIH, Bethesda, Maryland, USA.Research Instructor (1/95 – 9/97) Institute for Molecular and Human Genetics and Department of Pediatrics,

Georgetown University Medical Center, Washington, District of Columbia, USA. (Faculty appointment held concurrently with Visiting Fellowship above).

Director of Research and Development (9/97 – 4/99) DNA Diagnostic Laboratory, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Baltimore, Maryland, USA. Co-Director, Preimplantation Genetic Diagnosis Program, Institute of Genetic Medicine and Division of Reproductive Medicine, Johns Hopkins Hospital, Baltimore, Maryland, USA.

Assistant Professor (9/97 – 6/06) Department of Pediatrics, Division of Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Joint Appointment, Department of Gynecology & Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. (full-time appointments were converted to part-time status in July 2000)

Scientific Advisor (5/99 – 12/07) Molecular Diagnosis Center, National University Hospital, SINGAPORE.Senior Lecturer/Assistant Professor (5/99 – 12/02) Department of Pediatrics, Yong Loo Lin School of

Medicine, National University of Singapore, SINGAPORE.Investigator (4/00 – 12/01) Human and Molecular Genetics Laboratory, Johns Hopkins Singapore, SINGAPORE.Affiliate (7/04 – 6/06) McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of

Medicine, Baltimore, Maryland, USA.Visiting Associate Professor (7/07 – 12/07) Department of Pathology, Stanford University, Palo Alto,

California, USA.

RESEARCH INTERESTSa. DNA and molecular cytogenetic diagnostic developmentb. Preimplantation genetic diagnosis and screeningc. Genetic epidemiology of complex disease

i. pregnancy-related disordersii. congenital cleft lip and palate

d. Functional analysis of putative craniofacial genes in the zebrafish

GRANTS RECEIVEDAs Principal Investigator, Project Director, or Co-Principal InvestigatorCurrent1. R01 DE014581-07 (NIDCR/NIH, USA). USD 179,270 (NUS site PI). (PI: Terri H Beaty). “International Genetic

Epidemiology of Oral Clefts”. 1 Jun 2009 – 31 May 20142. NMRC/1079/2006 (MOH, Singapore). SGD 370,000 (PI). “Development of a Homogeneous Assay Platform

Generally Applicable to the Molecular Diagnosis of Dynamic Mutation Disorders”. 4/07 – 3/123. HSDP 05/X01 (MOH, Singapore) extension. SGD 247,290 (Project Director). “Preimplantation Genetic

Diagnosis”. 1 Apr 2011 – 31 Mar 20124. NMRC/1124/2007 (MOH, Singapore). SGD 358,900 (PI). “Genetic Epidemiology of Pre-Eclampsia:

Maternal & Paternal Genetic Variation at the HLAG & KIR2DL4 Gene Loci & Susceptibility to Disease”. 8/07 – 9/11

Completed1. HSDP 05/X01 (MOH, Singapore). SGD 2,278,408 (Project Director). “Preimplantation Genetic

Diagnosis”. 10/05 – 3/112. BMRC 03/1/21/18/222 (A*STAR, Singapore). SGD 1,440,705 (PI). “Establishment and Validation of a

Preimplantation Genetic Diagnosis Program in Singapore”. 7/03 – 6/10

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3. BMRC 06/1/21/19/459 (A*STAR, Singapore). SGD 803,910 (PI). “Function and Regulatory Control of the Van Der Woude Syndrome Gene IRF6 in the Zebrafish Model”. 1/07 – 6/10

4. NMRC/1027/2005 (MOH, Singapore). SGD 218,928 (Co-PI, with Daniel YT Goh as PI). “The Identification and Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations and Polymorphisms in Asians with Chronic Pulmonary Disease”. 1/06 – 2/10

5. R01 DE014581 (NIDCR/NIH, USA). USD 404,786 (NUS site PI). Overall USD 3,406,226 (PI: Terri H Beaty). “International Genetic Epidemiology of Oral Clefts”. 3/04 – 12/09

6. HSDP 06/X03 (MOH, Singapore). SGD 459,734 (Co-PI, with PC Wong as PI). “Preimplantation Genetic Screening to Improve Pregnancy Rates in Poor Prognosis ART Patients”. 11/06 – 10/09

7. BMRC 04/1/21/19/310 (A*STAR, Singapore). SGD 784,820 (PI). “Automated Mutation/SNP Lab-On-A-Chip Devices for Molecular Diagnostics and Genomic Research”. 2/05 – 12/08

8. NMRC/0732/2003 (MOH, Singapore). SGD 185,873 (PI). “Molecular Basis of Nonsense-Mediated mRNA Decay (NMD) in Beta-Thalassemia”. Award includes supplementary grant of SGD 16,000 (NMRC/0732/2003/S1). 6/03 – 6/08

9. NUS ARF R-178-000-104-112 (MOE, Singapore). SGD 150,000 (PI). “Genomic and In Situ Expression Analyses of the Zebrafish Homologs of TWIST, the Gene Mutated in Saethre-Chotzen Syndrome”. 2/04 – 6/07

10. NMRC/0657/2002 (MOH, Singapore). SGD 358,560 (PI). “Single Nucleotide Polymorphisms (SNPs) in the MDR1 Gene in the Three Ethnic Groups in Singapore – Correlating Polymorphisms/Haplotypes with Drug Transport in Search of Functional SNPs”. Award includes supplemental funding of SGD 13,000 from the NMRC Research Committee, and supplementary grant of SGD 16,000 (NMRC/0657/2002/S1). 10/02 – 12/06

11. NUS ARF R-178-000-080-112 (MOE, Singapore). SGD 176,951 (PI). “Retroviral-Mediated Strategies for In Vivo Expression Reporting and Isolation of Novel Zebrafish Genes Important in Human Development and Disease”. 10/02 – 12/06

12. NUS ARF R-178-000-075-112 (MOE, Singapore). SGD 164,900 (Co-PI, with Daniel YT Goh as PI). “An Evaluation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations in Asians with Chronic Pulmonary Disease”. 5/02 – 4/05

13. NHG RPR/02090 (MOH, Singapore). SGD 161,158 (Co-PI, with Yap-Seng Chong as PI). “Genetic Epidemiology of Preeclampsia”. 8/02 – 7/04

14. NMRC/0425/2000 (MOH, Singapore). SGD 249,530 (PI). “Simplified Molecular Diagnostic Testing for Fragile X Mental Retardation Syndrome”. 8/00 – 7/04

15. NMRC/0365/1999 (MOH, Singapore). SGD 216,550 (PI). “Development of Simplified and Highly Sensitive Molecular Diagnostic Testing for Alpha Thalassemia”. 10/99 – 5/03

16. NHG BRG/01004 (MOH, Singapore). SGD 95,375 (PI). “International Genetic Epidemiology of Oral Clefts”. 12/01 – 3/03

17. NUS ORE D-E01-R26-178-106 (MOE, Singapore). SGD 99,372 (PI). “Fluorescence Polarization Technology for SNP Genotyping”. 2/02

18. JHS (Johns Hopkins Singapore) intramural funding. USD 1,500,000 (Co-PI, with Ethylin W Jabs and Terri H Beaty as PIs). “Genetics of Craniofacial Malformations”. 4/00 – 3/03 (prematurely concluded in 12/01 due to institutional restructuring)

19. NUS ARF R-178-000-013-214 (MOE, Singapore). SGD 25,000 (PI). Seed Grant for laboratory start-up. 7/99 – 6/01

20. NUS ORE D-E01-S26-178-106 (MOE, Singapore). SGD 340,000 (PI). “Genetic Analyzer Core Facility”. 11/00

As Collaborator1. NUS ARF R-364-000-026-112 (MOE, Singapore). SGD 85,000. (PI: Husnain Haider). “Human Skeletal

Myoblast Transplantation for Cardiac Repair: Molecular Basis of Donor Cell Survival and Improvement of Myocardial Performance”. 4/04 – 4/06

2. BMRC 03/1/31/19/249 (A*STAR, Singapore). SGD 529,400 (PI: Caroline G. Lee). “Molecular Elucidation of the Role of FAT10 in Carcinogenesis”. 7/03 – 6/05

3. Totalizator Board, Singapore. SGD 153,492 (PI: Guek-Im Tang). “Versatile DNA Diagnostic Strategy for Multi-Mutation Carrier Detection, Targeted Prenatal Diagnosis or Population Screening of -Thalassemia and Non-Deletional -Thalassemia”. 8/02 – 7/05

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4. Totalizator Board, Singapore. SGD 221,800 (PI: Chiew-Hun Phang). “Assessment of Retroviral-Mediated Gene Delivery, Expression, and Integration in Zebrafish for Application to Trait Modification and Enhancement in Ornamental Fish”. 2/02 – 1/05

5. NMRC/0562/2001 (MOH, Singapore). SGD 281,450 (PI: Hui-Kim Yap). “Genetic Polymorphisms of the IL-13 Gene and IL-13 Receptor Complex Genes in Minimal Change Nephrotic Syndrome of Childhood ”. 9/01 – 9/04

6. NMRC/0408/2000 (MOH, Singapore). SGD 499,800. (Co-PIs: Chew-Kiat Heng and Hongyuan Yang). “Novel Genetic Variation Screening in the Newly Cloned Acyl Coenzyme A: Cholesterol Acyltransferase2 (ACAT2) Gene in the Three Ethnic Groups of Singapore and their Impact on Plasma Lipid Factors in Relation to Coronary Artery Disease”. 5/00 – 4/03

7. R21 DE13707 (NIDCR/NIH, USA). USD 150,000 (PI: Terri H Beaty). “International Genetic Epidemiology of Oral Clefts”. 5/00 – 4/03

8. NMRC/0410/2000 (MOH, Singapore). SGD 147,197 (PI: Lynette Pei-Chi Shek). “Genetic Susceptibility to Asthma and Atopy in Singapore Chinese – Defining Susceptibility Loci and Disease Associated Polymorphisms of Candidate Genes on Chromosome 5q31-33”. 5/00 – 4/02

9. The ARC Foundation, USA. USD 21,505 (PI: Hugo W Moser). “Accurate Identification of Women Heterozygous for X-linked Adrenoleukodystrophy”. 1/99 – 12/99

10. Cystic Fibrosis Foundation, USA. USD 19,302 (PI: Garry R Cutting). “Genotyping Center”. 11/98 – 10/99

PATENTS1. International Patent Application No, PCT/SG2010/000396. Title: Screening Method for Trinucleotide

Repeat Sequences. Inventors: Chong SS, Teo CRL, Lee CG. Filed on 15 Oct 2010.2. US Provisional Patent Application No, 61/252,182. Title: Simplified Methylation-Specific PCR Analysis of

FMR1 CGG Repeat Expansions. (09206N-US/PRV). Inventors: Chong SS, Teo CRL, Lee CG. Filed on 16 Oct 2009.

3. US Provisional Patent Application No, 61/107,376. Title: Identification of a Genetic Factor (HLA-G*0106) Associated with Increased Risk of Pre-Eclampsia. (CHONG SS 01-US/PRV). Inventors: Chong SS, Chong YS, Annamalai L, Lee CGL, Ho JFV, Tan CY. Filed on 22 Oct 2008.

HONORS, PRIZES & AWARDS1. Singapore Institute of Biology Book Prize (best in sophomore year biology) – National University of

Singapore, SINGAPORE. ‘842. Research Award (Univ. of British Columbia, Vancouver, CANADA) – for travel to 16th International

Congress of Genetics, Toronto, CANADA. 8/883. Travel Award (Lee Foundation, SINGAPORE). 1/894. First Place Award, 5th Annual Graduate Student Research Symposium Poster Competition, Graduate

School of Biomedical Sciences, Baylor College of Medicine, Houston, TX. 4/935. ASHG Predoctoral Clinical Research Award, 43rd Annual Meeting of American Society of Human Genetics,

New Orleans, LA. 10/936. Biochemistry / Molecular Biology Award (sponsored by the Univ. of Texas Medical Branch Dept. of

Human Biological Chemistry and Genetics), 35th Annual National Student Research Forum, Galveston, TX. 4/94

7. Award for Research Excellence in the Area of Genetics and Birth Defects (sponsored by the March of Dimes Birth Defects Foundation), 35th Annual National Student Research Forum, Galveston, TX. 4/94

8. Finalist, ASHG Postdoctoral Clinical Research Award, 44th Annual Meeting of American Society of Human Genetics, Montreal, CANADA. 10/94

9. 2nd Joint Clinical Genetics Meeting Travel Award, to attend 26th Annual March of Dimes Clinical Genetics Conference / American College of Medical Genetics 2nd Annual Meeting, Los Angeles, CA. 3/95

10. NIH Fellows' Award for Research Excellence, National Institutes of Health, Bethesda, MD. 3/9611. 4th Joint Clinical Genetics Meeting Travel Award, to attend 28th Annual March of Dimes Clinical Genetics

Conference / American College of Medical Genetics 4th Annual Meeting, Fort Lauderdale, FL. 2/9712. Award for Excellence in Scholarly Publishing within Clinical Medicine (2002) (sponsored by the American

Association of Publishers/Professional Scholarly Publishing), for the book Cleft Lip and Palate: From Origin to Treatment (DF Wyszynski, ed.) to which I contributed a chapter. 1/03

13. Who’s Who in Medicine and Healthcare, 2004-2005 – Marquis Who’s Who. 6/04

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14. Assessor Award (Bronze), Singapore Laboratory Accreditation Scheme, Singapore Accreditation Council. 6/09

SCHOLARSHIPS & FELLOWSHIPS1. SEAMEO-BIOTROP Scholarship – South-East Asian Ministers of Education Organization Regional Center

for Tropical Biology, Bogor, INDONESIA. 3/862. CIDA Fellowship – Canadian International Development Agency, Ottawa, CANADA. 9/86 – 12/883. Graduate Research Fellowship – Institute for Molecular and Human Genetics, Baylor College of Medicine,

Houston, TX. 1/89 – 1/904. Full Tuition Scholarship – Graduate School of Biomedical Sciences, Baylor College Medicine, Houston, TX.

1/89 – 3/945. NIH Visiting Fellowship – National Human Genome Research Institute, National Institutes of Health,

Bethesda, MD. 8/94 – 9/97

COURSES TAUGHTA. NUS Yong Loo Lin School of Medicine1. Lecturer, Medicine (MBBS) Year 1 Structural & Cell Biology Track MD1120. 2000 -20062. Lecturer, Medicine (MBBS) Year 2 Pathology Course MD2141. 2000 - 20063. Lecturer, MBBS Year 3-4 Pediatric Genetics Course. 2001 - 20024. Lecturer, Postgraduate Pediatric Trainee Core Curriculum. 2001 - 2002B. NUS Cross Faculty Graduate Program5. Lecturer, Graduate Program in Biomedical Engineering Core Module BN5103, Advanced Molecular

Biology – Faculty of Engineering and Yong Loo Lin School of Medicine. 2002 - 2007C. NUS Division of Graduate Medical Studies6. Lecturer, Masters in Clinical Embryology Program. 1999 - 20017. Lecturer, Master of Clinical Investigation Program Module MCI5004, Molecular Biomarkers in Clinical

Research. 2008 - D. NUS Faculty of Dentistry8. Lecturer, Dentistry (BDS) Year 1 Biochemistry Course DY102/MD1120A. 2000 - E. NUS Life Science Curriculum9. Lecturer, Bachelor of Science (BSc) Year 3 Module BY3202/3236, Molecular Aspects of Human Disease /

Molecular Biology of Diseases. 1999 - 200010. Lecturer, Bachelor of Science (BSc) Honors Year Module LSM4225, Genetic Medicine in the Post-Genomic

Era. 2008 - F. Other NUS Teaching11. Teaching Assistant, Freshman Year General Physiology Laboratory – Department of Zoology, NUS.

1985/198612. Tutor, NUS Department of Zoology Honors Year Field Trip, June 1987 – Pulau Tioman, MALAYSIA. 1987G. Non-NUS Teaching13. Lecturer, Foundation for Advanced Education in the Sciences (FAES) Gene 500M Course: Introduction to

Medical Genetics, – National Institutes of Health, Bethesda, MD. Fall 199614. Lecturer, Diploma in Biomedical Science, Ngee Ann Polytechnic – National University Hospital Joint

Program on Medical Laboratory Science, SINGAPORE. 2000 – 2005

SUPERVISION OF STUDENTS/TRAINEESA. NUS-NUH Clinician Scientists1. Dr Yung Seng LEE, Department of Pediatrics, Yong Loo Lin School of Medicine, NUS. NMRC-BMRC

Clinician Scientist Investigator Award (Category B). “Obesity Genes Study (OGS): uncovering genetic variations which predispose to human obesity and obesity-related complications”. 4/06 – 3/09

2. Dr Lin Lin SU, Department of Obstetrics & Gynecology, Yong Loo Lin School of Medicine, NUS. Pitch For Funds Clinician Scientist Award, NUS Leadership in Academic Medicine (NLAM) Program. “Non-invasive prenatal exclusion of haemoglobin Bart’s hydrops fetalis”. Since 4/06

B. Post-doctoral Fellows1. Dr Boran JIANG, “Advances in preimplantation genetic diagnostic testing technology”. 1/09 – 2. Dr Felicia SH CHEAH, “IRF6 function and regulation in the zebrafish”. 6/07 – 3. Dr Wen WANG, “Novel molecular diagnostic strategies and technologies”. 7/05 – 10/08

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4. Dr Dong LIANG, “Functional analysis of candidate craniofacial genes in the zebrafish, Danio rerio”. 5/00 – 12/01

C. Doctoral Students1. Yankun MA, Graduate student and NUS Research Scholar. Research Project: Identification of IRF6

Downstream Target Genes. Since 4/112. Min CHEN, Graduate student and NUS Research Scholar. Research Project: Advanced Genomic Strategies

for Preimplantation Diagnosis of Common Genetic and Reproductive Disorders. Since 8/103. Clara Ru Lin TEO, PhD candidate and NUS Research Scholar. Research Project: Novel strategies for

molecular and single-cell preimplantation genetic diagnosis of trinucleotide repeat disorders – Huntington disease and fragile X syndrome as examples. 1/07 – 12/10

4. Jin BEN (Graduated August 23, 2007). NUS Research Scholar. PhD Thesis: Molecular characterization and developmental analysis of the interferon regulatory factor 6 gene in zebrafish. 7/01 – 12/06

5. Felicia Siew-Hong CHEAH (Graduated May 21, 2007). PhD Thesis: Molecular characterization and developmental analysis of the tgf3 gene in zebrafish. 10/00 – 10/06

6. Wen WANG (Graduated June 30, 2005). NUS Research Scholar. PhD Thesis: Molecular diagnostics and mutation characterization in thalassemia. 7/00 – 7/04

D. Masters Students1. Victor Hua Kuok YONG, Graduate Student. Research Project: Analysis of cis regulatory elements of the

IRF6 gene in the zebrafish. 7/08 – 12/09 (withdrawn)2. Pooi Eng LOO, Graduate Student. MSc Thesis: Molecular mechanisms of nonsense-mediated mRNA decay

in beta-thalassemia. 8/05 – 12/093. Gare Hoon YEO, MSc (Graduated December 31, 2009). MSc Thesis: Molecular characterization and

developmental analysis of the twist gene family in zebrafish. 7/07 – 11/084. Dr. Ardeshir OMOUMI, MSc, (Graduated December 31, 2009). A*STAR International Scholar. MSc Thesis:

A medical molecular genetics of orofacial clefting: role of ABC transporter polymorphisms in disease risk . 12/06 – 10/08

5. Chia Yee TAN, MSc (Graduated May 19, 2009). MSc Thesis: HLA-G and KIR2DL4 alleles/haplotypes and risk of pre-eclampsia in a Malay population. 1/05 – 6/08

6. Belinda Mei Tze LING, Graduate Student. Research Project: Cis regulatory elements of irf6 gene in zebrafish. 1/07 – 12/07 (withdrawn)

7. Arnold Sia-Chye TAN, MSc (Graduated March 10, 2005). MSc Thesis: Molecular assays for diagnosis and single cell analysis of - and -thalassemia mutations. 1/00 – 12/03

8. Xiaotao QIN, MSc (Graduated April 7, 2005). NUS Research Scholar. MSc Thesis: Haplotype profiles and linkage disequilibrium analyses at the ABCA2 and PXR gene loci in three ethnic Asian groups. 7/01 – 6/03

9. Youyou ZHOU, MSc (Graduated February 19, 2004). NUS Research Scholar. MSc Thesis: Molecular genetic studies of fragile x syndrome and spinocerebellar ataxia type 2. 7/00 – 6/03

E. Undergraduates1. Ah Jung JEON, Adam Wei Jian SOH, Andy De-Shun SOO , 1st year students, Faculty of Science, NUS.

SP 2171 (Atoms to Molecules) Independent Focus project report: The diagnosis of thalassemia: a review. 1/11 – 4/11.

2. Wen Lin TEO, final year student, Law and Life Sciences Double Degree Programme, NUS. AY 2010/2011 Integrated Honours Project title: Determining the reliability of forensic scientific evidence using the error rate. 8/10 – 4/11

3. Joanna Siew Ming LIM, BSc(Hons) (Life Sciences-Biomedical Science) student, Faculty of Science, NUS. LSM 4199 Final Year Project title: Potentially functional SNPs of the MYH9 gene and risk for isolated oral clefting in man. 8/09 – 4/10

4. June Siew Hwee TAN, BSc(Hons) (Life Sciences-Biomedical Science) student, Faculty of Science, NUS. LSM 4199 Final Year Project title: Potentially functional SUMO1 polymorphisms and risk for isolated cleft lip and palate. 8/09 – 4/10

5. Chelsia Zhi En CHANG, BSc(Hons) (Life Sciences-Biomedical Science) student, Faculty of Science, NUS. LSM 4199 Final Year Project title: Delving deeper into the study of the OSR2 gene and the 8q24.21 locus for association with NSCL/P in Asians. 8/09 – 4/10

6. Sharon Shi Hui GOH, BSc(Hons) (Life Sciences-Biomedical Science) student, Faculty of Science, NUS. LSM 4199 Final Year Project title: Role of the transcription factor gene SP8 in modifying risk for nonsyndromic cleft lip and palate. 8/09 – 4/10

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7. Shui-Shian TAN, 3rd year student, Faculty of Science, NUS. Professional placement attachment. 6/01 – 11/01

8. June Sheau-Wei TANG, 3rd year student, Faculty of Science, NUS. Professional placement attachment. 6/01 – 11/01

9. Susan Swee-Shan HUE, 2nd year MBBS-PhD student, NUS. Laboratory Rotation. 5/01 – 7/0110. Grace Beng-Hua NG, 2nd year MBBS-PhD student, NUS. Laboratory Rotation. 5/01 – 7/01F. Non-Graduating Non-Exchange (NGNE) Students1. Achint KAUR, 4th year student, Bachelor of Technology in Biotechnology, Vellore Institute of Technology,

Vellore, India. Project title: Testing of candidate DDAH1 SNPs for association with pre-eclampsia risk in Malays. 1/11 – 6/11.

2. Ashvitha VASUDEVAN, 4th year student, Bachelor of Technology in Biotechnology, Vellore Institute of Technology, Vellore, India. Project title: Testing of candidate HLA-G SNPs for association with pre-eclampsia risk in Malays.. 1/11 – 6/11.

3. Soi Wei KOR, 3rd year medical student, University of Melbourne (Victoria, Australia) Medical School. BMedSc Advanced Medical Science research attachment. Project title: Is there a relationship between the STOX1 Y153H mutation and pre-eclampsia in pregnant females? 7/06 – 5/07

4. Lih Keong LIN, 3rd year medical student. BMedSc Advanced Medical Science research attachment. Project title: Interaction between HLA-C and KIR - an immunological cause of pre-eclampsia? 7/05 – 5/06

5. Wanyen LIM, 3rd year medical student. BMedSc Advanced Medical Science research attachment. Project title: Paternally imprinted STOX1 gene and pre-eclampsia in the Malay population. 7/05 – 5/06

6. Julia Fee Voon HO, 3rd year medical student. BMedSc Advanced Medical Science research attachment. Project title: HLA-G versus pre-eclampsia and gestational hypertension – is there a link? 7/04 – 5/05

G. Nanyang Technological University (NTU) Undergraduates1. Siew Kiang KOO, BSc(Hons) student, School of Biological Sciences, NTU. Final Year Project title: . 1/11

– 5/11.2. Yijia TAN, BSc(Hons) student, School of Biological Sciences, NTU. Final Year Project title: . 1/11 – 5/11.3. Sam Yin WONG, BSc(Hons) student, School of Biological Sciences, NTU. Final Year Project title: . 1/11 –

5/11.4. Yen Yek NG, BSc(Hons) student, School of Biological Sciences, NTU. BS4210 Final Year Project title:

Evaluation of whole genome amplification and molecular karyotyping strategies for preimplantation single cell analysis. 12/08 – 4/09

5. Yvonne Shea Ling NG, BSc(Hons) student, School of Biological Sciences, NTU. BS4210 Final Year Project title: Closed tube molecular diagnostic screen for beta-thalassaemia mutations using quenching probe technology. 12/06 – 4/07

6. Daren Juan Hsuen LOW, BSc(Hons) student, School of Biological Sciences, NTU. BS4210 Final Year Project title: Molecular characterization and developmental expression analysis of the Sotos syndrome causative gene NSD1 in zebrafish. 12/06 – 4/07

7. Xing XING, BSc(Hons) student, School of Biological Sciences, NTU. BS4210 Final Year Project title: Homogeneous assay for alpha-thalassemia deletions by SYBR Green fluorescence detection of PCR amplicons. 12/06 – 4/07

8. Ser Yeng LER, Final year BSc(Hons) student, School of Biological Sciences, NTU. Research internship. 5/06 – 10/06

9. Daren Juan Hsuen LOW, 3rd year BSc student, School of Biological Sciences, NTU. Research internship. 5/06 – 7/06

10. Lynette LAN, 3rd year BSc student, School of Biological Sciences, NTU. Research internship. 5/06 – 7/0611. Michelle See Mun SOH, 3rd year BSc student, School of Biological Sciences, NTU. Research internship. 6/06

– 7/0612. Clara Ru Lin TEO, BSc(Hons) student, School of Biological Sciences, NTU. BS4210 Final Year Project title:

Molecular diagnosis of trinucleotide repeat syndromes by DNA melting curve analysis – Huntington disease as an example. 12/05 – 4/06

13. Clara Ru Lin TEO, 3rd year BSc student, School of Biological Sciences, NTU. Research internship. 5/05 – 6/05

H. Training Attachment Students1. Joanne Sock Hwee ONG, Raffles Junior College student. MOE Gifted Education Branch Science Research

Program (SRP) Project title: Evaluation of the integration efficiency of a Tol2 transposon-based transgenic system. 5/06 -2/07

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2. Hong Chee NG and Yi Wei TAN, Final year students, Ngee Ann Polytechnic. Industrial Attachment and Final Year Project. Project title: Transposon-based EGFP/DsRed reporter gene constructs for simplified promoter cloning and sustained expression analysis. 4/05 – 2/06

3. Jonathan Jin Yuan TEO, Raffles Junior College student. MOE Gifted Education Branch Science Research Program (SRP) Project title: Analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Q1532H mutation in Chinese and Malay patients with chronic pulmonary disease. 5/05 – 2/06

4. Chin Wern ONG, Raffles Junior College student. MOE Gifted Education Branch Science Research Program (SRP) Project title: Evaluating the relationship between the cystic fibrosis transmembrane conductance regulator (CFTR) gene I125T and I556V mutations and chronic lung disease in Singapore Chinese. 5/05 – 2/06

5. Simon GOH, Jia Rong HO and Felix LIM, Final year students, Ngee Ann Polytechnic. Final Year Project. Project title: Molecular diagnosis of thalassemia using realtime polymerase chain reaction and melting curve analysis. 9/05 - 12/05

6. Dollyn QUEK and Yen Yek NG, Final year student, Ngee Ann Polytechnic. Industrial Attachment and Final Year Project. Project title: Homogeneous assay molecular diagnostic strategy for thalassemia. 5/04 – 2/05

7. David HUANG and Pei Pei TEO, Final year students, Ngee Ann Polytechnic. Industrial Attachment and Final Year Project. Project title: Transposon-mediated transgenesis of zebrafish with regulated expression of fluorescent reporter proteins. 5/04 – 2/05

8. Chia Yee TAN, Final year BSc in Biotechnology student, Universiti Malaysia Sabah (UMS). Industrial Training attachment. 3/04 – 6/04

9. Pooi Eng LOO, Final year BSc in Biotechnology student, Universiti Malaysia Sabah (UMS). Industrial Training attachment. 3/04 – 6/04

10. Abdul Rashid bin Mohd Muzaki and Jarrod Jie LUO, Final year students, Ngee Ann Polytechnic. Industrial Attachment and Final Year Project. Project title: Development of a Tol2 transposon-based gene transfer system for zebrafish transgenesis. 5/03 – 12/03

11. Yvonne Shea Ling NG and Fei XIE, Final year students, Ngee Ann Polytechnic. Industrial Attachment and Final Year Project. Project title: Molecular detection of deletional and non-deletional alpha-thalassemia mutations using real-time PCR. 5/03 – 12/03

12. Celeste GOH and Hong Keat PHUA, 2nd Year students, Singapore Polytechnic. Industrial Training attachment I (11/02 – 12/02) and II (5/03 – 7/03).

13. Choon-Ai KHOO and Serene TAN, Final year students, Ngee Ann Polytechnic. Final Year Project. Project title: Versatile DNA diagnostic strategy for multi-mutation carrier detection, targeted prenatal diagnosis or population screening of -thalassemia and non-deletional -thalassemia. 9/02 – 2/03

14. Mor Jack NG and Sean Boon Chun CHANG, Final year students, Ngee Ann Polytechnic. Industrial Attachment and Final Year Project. Project title: Molecular cloning, sequencing, and in vivo expression testing of 5’ regulatory segments of the muscle-specific myogenin and tropomodulin4 genes in the zebrafish (Danio rerio). 5/02 – 2/03

15. Nur-Ezan Mohamed and Wei Chin TAN, Final year students, Ngee Ann Polytechnic. Industrial Attachment and Final Year Project. Project title: In vivo expression testing of the apolipoprotein E and rhodopsin gene promoter-EGFP constructs in zebrafish embryos - towards generation of transgenic fish displaying tissue-specific fluorescent color. 5/02 – 2/03

16. Shaun Wei-Ming SOON, 2nd year student, Singapore Polytechnic. Industrial Training attachment. 11/00 – 12/00

17. Gare-Hoon YEO, 2nd year student, Singapore Polytechnic. Industrial Training attachment. 5/00 – 6/0018. Eugene F-S LEONG, Kevin W-J SOH, Christopher K-M THAM, and Z-M LIM, Raffles Institution students,

Singapore. ThinkQuest International Internet Challenge, a competition to create the best websites for learning. Project title: DNA – the code of life. 4/00 – 7/00

19. Brooke BOURDELAT-PARKES, Summer Student Training Program – National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. 1995

I. Overseas Trainees1. Dr. Arundhati ATHALYE (PhD), Senior Scientific Officer/Research Officer, Dept. of Assisted Reproduction

and Genetics, Jaslok Hospital and Research Centre, Mumbai, India. Training attachment to learn single cell PCR techniques for preimplantation genetic diagnosis of inherited disorders. 16-27 Aug 2010.

2. Indhumathi NAGARATHINAM, PhD candidate, Department of Genetics, University of Madras, Taramani, Chennai- 600 113, India. Project title: Ms-PCR analysis of the FMR1 CGG trinucleotide repeat in normal and fragile X syndrome individuals from Tamil Nadu, India. 20 Sep 2006 – 19 Jan 2007.

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AWARDS, PRIZES, & HONORS OF STUDENTS/TRAINEES1. Best Clinical Science Poster Award to MSc student Arnold SC TAN, 4th NUH-NUS FOM Annual Scientific

Meeting, 30 June – 1 July 2000. Poster title: Single cell analysis of --SEA determinant of -thalassemia for preimplantation genetic diagnosis of Hb Bart’s hydrops fetalis syndrome.

2. Finalist, Best Clinical Science Poster Award to MSc student Arnold SC TAN, 5th NUH-NUS FOM Annual Scientific Meeting, 29-30 June 2001. Poster title: Simplified multiplex gap-PCR diagnostic testing for -thalassemia.

3. Finalist, Best Therapeutics & Diagnostics Poster Award to MSc student Youyou ZHOU, 3rd Combined Annual Scientific Meeting, 12-13 November 2001. Poster title: A methylation-specific PCR (ms-PCR) approach for simplified detection of fragile X syndrome.

4. Finalist, Best Clinical Science Poster Award to PhD student Wen WANG, 6th NUH-NUS FOM Annual Scientific Meeting, 16-17 August 2002. Poster title: Multiplex PCR and minisequencing assays of the HBB and HBA2 genes for thalassemia molecular diagnosis.

5. 2nd Prize in the Project Polympics, Open House 2003 to attachment student M Jack NG, Ngee Ann Polytechnic, Center for Life Sciences and Chemical Technology Project Poster Competition, November 2002. Poster title: Molecular cloning, sequencing, and in vivo expression testing of 5’ regulatory segments of the muscle-specific myogenin and tropomodulin4 genes in the zebrafish (Danio rerio).

6. Poster Merit Award to PhD student Felicia SH CHEAH, Life Sciences in Singapore – 4th Combined Scientific Meeting, 15-18 January 2003. Poster title: The zebrafish Danio rerio as an animal model for craniofacial development and disease – genomic and functional studies of tgfβ3.

7. Finalist, Poster Award to MSc student Youyou ZHOU, Life Sciences in Singapore – 4th Combined Scientific Meeting, 15-18 January 2003. Poster title: A comprehensive PCR-based diagnostic assay for rapid detection of the full spectrum of Fragile X mental retardation syndrome expansion mutations.

8. Finalist, Poster Award to PhD student Wen WANG, Life Sciences in Singapore – 4th Combined Scientific Meeting, 15-18 January 2003. Poster title: Rapid detection of -globin gene triplications (anti3.7 and anti4.2) by single-tube multiplex-PCR analysis.

9. 2nd Prize Poster Award to MSc student Arnold SC TAN, 4th Singapore Congress in O&G and 1st Singapore-Malaysia Conference in O&G, 16-19 January 2003. Poster title: Validation of a single cell polymerase chain reaction (PCR) assay for application to preimplantation genetic diagnosis (PGD) of hemoglobin (Hb) Bart’s hydrops fetalis syndrome.

10. Singapore Society for Soilless Culture Prize to attachment student M Jack NG for Outstanding Performance in the Module ‘Project’ in the Biotechnology Diploma Course, Ngee Ann Polytechnic, April 2003. Project title: Molecular cloning, sequencing, and in vivo expression testing of 5’ regulatory segments of the muscle-specific myogenin and tropomodulin4 genes in the zebrafish (Danio rerio).

11. Finalist, Best Basic Science Poster Award to PhD student Felicia SH CHEAH, 7th NUH-NUS FOM Annual Scientific Meeting, 2-3 October 2003. Poster title: Molecular dissection of the Saethre-Chotzen syndrome gene TWIST in the zebrafish model.

12. Australasian Society of Clinical Immunology and Allergy (ASCIA) Education Grant to University of Melbourne attachment student Julia FV HO, for medical students engaged in research related to clinical immunology, Nov 2004. Project title: Feto-Maternal HLA G genotype mismatch significantly increases risk for pre-eclampsia but not gestational hypertension in the Malay population.

13. Finalist, NUS Basic Science Poster Award to Postdoctoral fellow Dr Wen WANG Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005. Poster title: Sequential nuclear and cytoplasmic degradation of mutant transcripts containing premature termination codons – Evidence for translation-dependent and translation-independent mechanisms.

14. NUS Clinical Science Poster Award to University of Melbourne attachment student Julia FV HO, Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005. Poster title: Fetal HLAG genotype is associated with significantly increased risk for pre-eclampsia but not gestational hypertension in the Malay population.

15. SSEF 2006 Bronze Award to RJC student Jonathan JY TEO, Singapore Science and Engineering Fair, Mar 2006. Poster title: Analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Q1532H mutation in Chinese and Malay patients with chronic pulmonary disease.

16. SSEF 2007 Gold Award to RJC student Amelia NS CHANG, Singapore Science and Engineering Fair, Mar 2007. Poster title: Development of a Novel Approach for Applications in Preimplantation Genetic Diagnosis of Duchenne Muscular Dystrophy.

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17. ISEF 2007 Intel Foundation First Place Award in Medicine and Health Sciences to RJC student Amelia NS CHANG, Intel International Science and Engineering Fair, Albuquerque, New Mexico, USA, May 2007. Poster title: Development of a Novel Approach for Applications in Preimplantation Genetic Diagnosis of Duchenne Muscular Dystrophy.

18. ISEF 2007 Agilent Technologies Paid Summer Internship to RJC student Amelia NS CHANG, Intel International Science and Engineering Fair, Albuquerque, New Mexico, USA, May 2007. Poster title: Development of a Novel Approach for Applications in Preimplantation Genetic Diagnosis of Duchenne Muscular Dystrophy.

THESIS ADVISORY/STEERING COMMITTEES (*Chair)1. 02/2010 Aniza Puteri MAHYUDDIN*, PhD Candidate, Ob/Gyn, NUS. Novel surface marker for enrichment

of fetal nucleated red blood cell (FNRBC) from maternal blood: Profiling of membrane lipids of adult and fetal erythrocyte using mass spectrometry. (Advisor: Mahesh A CHOOLANI)

2. 10/2009 Tarang Kumar MEHTA, PhD Candidate, Pediatrics, NUS. Sequencing and characterizing the Hox clusters in the Japanese lamprey. (Advisor: Byrappa VENKATESH)

3. 10/2009 Member, TAC of David TRAN, PhD Candidate, Pediatrics, NUS. Sequencing and characterizing the Iroquois locus in the elephant shark. (Advisor: Byrappa VENKATESH)

4. 10/2008 Grace Su-Yin PANG*, PhD Candidate, Biochemistry, NUS. The role of opioid receptor gene single nucleotide polymorphisms in the development of opioid-induced emesis in Chinese surgical patients in Singapore. (Advisor: Caroline GL LEE)

5. 10/2008 Zijin SUN*, PhD Candidate, Pediatrics, NUS. Genetics of primary nephrotic syndrome. (Advisor: Hui-Kim YAP)

6. 10/2008 Hongzhe LI*, PhD Candidate, Pediatrics, NUS. Genetic epidemiology and functional characterization of genes associated with coronary artery disease. (Advisor: Chew-Kiat HENG)

7. 06/2003 Yee Peng PHOON, MSc Candidate, Graduate Program in Bioengineering, NUS. Development of a cancer SNP chip. (Advisor: Caroline GL LEE)

8. 01/2003 Sherry Sze-Yee HO, PhD Candidate, Ob/Gyn, NUS. Clinical applications of fetal DNA in maternal plasma. (Advisors: Arijit BISWAS and Mahesh A CHOOLANI)

9. 05/2002 Nuruddin Baharuddin MOHAMMED, PhD Candidate, Ob/Gyn, NUS. Impact of invasive procedures on fetal erythroblast trafficking within maternal blood – a biological model of fetomaternal hemorrhage. (Advisors: Woon-Khiong CHAN, Arijit BISWAS)

10. 01/2002 Pai-Chung GWEE*, PhD Candidate, Biochemistry, NUS. Genetic characterization of nucleoside analogue transporters ABCC4 and ABCC5 gene loci. (Advisor: Caroline GL LEE)

11. 01/2002 Suman LAL Chirammal Sugunan, Graduate Student, Pediatrics, NUS. DNA-chip-based genotyping of candidate genes for coronary artery disease. (Advisors: Chew-Kiat HENG, Robert HY YANG, Poh-Sim LOW)

12. 01/2002 Jenny Hui-Hui TAN*, PhD Candidate, Pediatrics, NUS. Lipid-related candidate genes for coronary artery disease. (Advisors: Chew-Kiat HENG, Robert HY YANG, Poh-Sim LOW)

13. 01/2001 Yuen-Ming TAN*, PhD Candidate, Pediatrics, NUS. Molecular pathogenesis of the short stature homeobox-containing (SHOX) gene. (Advisors: Seng-Hock QUAK, Kah-Yin LOKE)

PHD QUALIFYING EXAMINATION COMMITTEES1. 04/2011 Dr. Citra MATTAR, Ob/Gyn, NUS. The non-human primate as a model for intra-uterine gene

therapy. (Advisors: Mahesh A Choolani, Jerry Chan, Arijit Biswas)2. 08/2010 Koon Yeow LEOW, Pediatrics, NUS. The role of Serum Amyloid A1 (SAA1) in coronary artery

disease – evidence from genetic and functional studies. (Advisor: Chew-Kiat Heng)3. 04/2009 Dr. Aniza Puteri MAHYUDDIN, Ob/Gyn, NUS. Novel surface marker for enrichment of fetal

nucleated red blood cell (FNRBC) from maternal blood: Profiling of membrane lipids of adult and fetal erythrocyte using mass spectrometry. (Advisor: Mahesh A Choolani)

4. 02/2009 Hongzhe LI, Pediatrics, NUS. Anti-atherosclerotic effect of serum amyloid A (SAA). (Advisor: Chew-Kiat Heng)

5. 02/2008 Siew Hong LEONG, Biochemistry, NUS. Understanding the molecular circuitry of gastric cancer: A whole genome approach integrating spectral karyotyping, DNA copy number, transcriptome and the miRNome. (Advisor: Oi-Lian Kon)

6. 05/2006 Linghui LI, Pharmacology, NUS. Genetic variability of the hCNT2 (SLC28A2) gene in Chinese, Malays and Indians. (Advisor: Edmund JD Lee)

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7. 07/2005 Sherry Sze-Yee HO, Ob/Gyn, NUS. Clinical applications of fetal DNA in maternal plasma. (Advisors: Arijit Biswas, Mahesh A Choolani)

8. 11/2004 Yulan ZHAO, Pediatrics, NUS. Effects of atherogenic diet and lipid-lowering agents on gene expression profiles in C57BL/6J mice. (Advisor: Chew-Kiat Heng). Re-examined on 02/2005

9. 05/2003 Yi LU, Pediatrics, NUS. Array based primer extension assay for genotyping of Asian thalassemia mutations. (Advisors: Allen EJ Yeoh, Chew-Kiat Heng, Thuan-Chong Quah)

10. 01/2003 Yuen-Ming TAN, Pediatrics, NUS. Clinical and molecular characterisation of the SHOX gene in children with growth disorders. (Advisors: Seng-Hock Quak, Kah-Yin Loke)

11. 12/2001 Jenny Hui-Hui TAN, Pediatrics, NUS. Genetic epidemiology of coronary artery disease. (Advisors: Chew-Kiat Heng, Robert HY Yang, Poh-Sim Low)

STUDENT EXAMINATIONSA. NUS Coursework Examinations1. Internal Examiner and Invigilator in LSM4225, BSc(Hons) in Life Sciences. Since 20092. Internal Examiner and Invigilator in BN5103, Graduate Program in Bioengineering. 2002-20083. Internal Examiner in Structural and Cell Biology, First Professional M.B., B.S. Examination. 2001-20064. Internal Examiner in Biochemistry, First Professional B.D.S. Examination. Since 2001

B. NUS Thesis Examinations5. University Examiner, PhD Thesis of Ms Hongzhe LI, Department of Pediatrics, Yong Loo Lin School of

Medicine. Thesis: Anti-atherosclerotic effect of Serum Amyloid A (SAA) and Cholesterol Efflux – A Mechanistic Study. (Advisor: Assoc Prof Chew-Kiat Heng) Mar 2011

6. University Examiner, PhD Thesis of Ms Thi Thu Hang NGUYEN , Department of Biological Sciences, Faculty of Science. Thesis: Functional Analysis of TBX2A During Development of the Pharyngeal Arches. (Advisor: Assoc Prof Vladimir Korzh) Jul 2009.

7. University Examiner, PhD Thesis of Mr Krish Jon MATHAVAN , Department of Pediatrics, Yong Loo Lin School of Medicine, and Institute of Molecular and Cell Biology. Thesis: Identification and Characterization of Conserved Regulatory Elements by Comparative Genomics. (Advisor: Prof Byrappa Venkatesh) Oct 2008.

8. University Examiner, MSc Thesis of Mr Chang Hua WONG , Department of Pharmacology, Yong Loo Lin School of Medicine. Thesis: Population Genetics of Calcium-Handling Proteins. (Advisor: Prof Edmund JD Lee) Mar 2008

9. University Examiner, MSc Thesis of Ms Yan RONG , Graduate Program in Bioengineering. Thesis: Target Quantitative Detection and Discrimination Study by Quenching Probes, Molecular Beacons, and Quenching Beacons. (Advisor: Assoc Prof Wen-Tso Liu) Jul 2006

10. University Examiner, MSc Thesis of Ms Shui Shian TAN , Department of Biological Sciences, Faculty of Science. Thesis: Expression and Functional Studies of BNIP-2 in Zebrafish. (Advisor: Dr Boon-Chuan Low) Aug 2005

11. Member, MSc Pre-Thesis Oral Examination Committee of Ms Shui Shian TAN , Department of Biological Sciences, Faculty of Science. Project title: Expression and Functional Studies of BNIP-2 in Zebrafish. (Advisor: Dr Boon-Chuan Low) Jun 2005

12. University Examiner, PhD Oral Defense of Ms Grace Ying WANG, Department of Pharmacology. Thesis: Characterization of the Genetic Variability of Human Arylalklamine-N-Acetyltransferase (AA-NAT) and its Potential Effects on Melatonin Production and the Sleep Pattern. (Advisor: Prof Edmund JD Lee) Nov 2004

13. University Examiner, MSc Thesis of Mr Suman LAL Chirammal Sugunan, Department of Pediatrics. Thesis: Genetic Epidemiology of Coronary Artery Disease. (Advisor: Dr Chew-Kiat Heng) Jul 2004

14. University Examiner, PhD Thesis of Ms Grace Ying WANG, Department of Pharmacology. Thesis: Pharmacogenetics of Arylalkylamine Acetyltransferase and Potential Effects on Melatonin Production and Sleep Pattern. (Advisor: Prof Edmund JD Lee) Apr 2004

15. University Examiner, MSc Thesis of Ms Xiaozhu ZHANG, Department of Medicine. Thesis: The Polymorphisms of the High Affinity Immunoglobulin E Receptor Beta Chain, Beta 2 Adrenergic Receptor, Platelet Activating Factor Acetylhydrolase Genes and Asthma in Singapore. (Advisor: Prof Wan-Cheng Tan) Jul 2002

16. University Examiner, MSc Thesis of Ms Chitra SUNDARRAJAN, Department of Obstetrics & Gynecology. Thesis: Molecular Variants of Estrogen Receptor in Infertility and Diseases Related to Human Reproduction. (Advisors: Assoc Prof Ashim C Roy and Dr Wuxiang Liao) Sep 2000

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C. External Examinations17. External Examiner, PhD Thesis of Mr Yong Chui WEE, Faculty of Medicine, Institute of Graduate Studies,

University of Malaya. Thesis: Reverse Dot Blot Hybridisation for Rapid and Specific Screening of Malaysians with Thalassaemia. Jan 2011

18. External Examiner, BMedSc Thesis of Ms Amy Yee Phei TAI, Advanced Medical Science Program , Faculty of Medicine, Dentistry & Health Sciences, The University of Melbourne, Australia. Thesis: Functional Characterization of a Positively Selected Single Nucleotide Polymorphism (SNP) in the ABCC2 Promoter. May 2006

19. External Examiner, BMedSc Thesis of Ms Xueling TAN, Advanced Medical Science Program, Faculty of Medicine, Dentistry & Health Sciences, The University of Melbourne, Australia. Thesis: Characterization of the Hepatitis B Virus X Gene in Hepatocellular Carcinoma Patients in Singapore. May 2006

20. External Examiner, Animal Physiology Course (SZS324), Biomedical Engineering Program , SIM University. (1 March 2006 – 30 June 2009).

21. External Examiner, MSc Thesis of Mr Chi Lung CHOI, Department of Pathology, Faculty of Medicine, The University of Hong Kong. Thesis: Modification of the Thalassemia Phenotype: An Analysis of some Genetic Factors. (Advisors: Dr Edmond SK Ma and Prof LC Chan) Aug 2005

ADMINISTRATIVE POSITIONS HELDA. Department/University1. Subcommittee Member, Symposium on Research in Biology and Biotechnology in Developing Countries,

2 – 4 Nov 1983, National University of Singapore, organized by the Singapore Institute of Biology, SINGAPORE.

2. Working Committee Member, 5th (International) Advanced Course on Micromanipulation, 31 May – 3 June 1999, National University Hospital, organized by the Department of Obstetrics and Gynecology, National University of Singapore, SINGAPORE. Involved in organizational planning and conduct of lectures and hands-on practical sessions.

3. Non-Resident Fellow, King Edward VII Hall of Residence, National University of Singapore, SINGAPORE. 7/99 – 9/99

4. Resident Fellow, King Edward VII Hall of Residence, National University of Singapore, SINGAPORE. Since 10/99

5. Working Committee Member, 6th (International) Advanced Course on Micromanipulation, 22 – 25 May 2000, National University Hospital, organized by the Department of Obstetrics and Gynecology, National University of Singapore, SINGAPORE. Involved in organizational planning and conduct of lectures and hands-on practical sessions.

6. Working Committee Member, 7th (International) Advanced Course on Micromanipulation, 29 May – 1 June 2001, National University Hospital, organized by the Department of Obstetrics and Gynecology, National University of Singapore, SINGAPORE. Involved in organizational planning and conduct of lectures and hands-on practical sessions.

7. Coordinator, NUS Pediatric Clinical and Molecular Research Unit, BMedSc/MBBS Advanced Medical Science Program, University of Melbourne, AUSTRALIA. Since 4/02

8. Acting Domestic Bursar, King Edward VII Hall of Residence, National University of Singapore, SINGAPORE. 11/02 – 12/02

9. Domestic Bursar, King Edward VII Hall of Residence, National University of Singapore, SINGAPORE. Since 1/03

10. Chairman, 4th Year Medical Students’ Debate, 18 February, 2003, The Children’s Medical Institute and National University of Singapore, SINGAPORE.

11. Judge, 4th Year Medical Students’ Debate, 12 July 2004, The Children’s Medical Institute and National University of Singapore, SINGAPORE.

12. Judge, 4th Year Medical Students’ Debate, 7 December 2004, The Children’s Medical Institute and National University of Singapore, SINGAPORE.

13. Coordinator, Graduate Research Seminar (GRS) Module MDG5771, Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, SINGAPORE. Since 2005

14. Member, Graduate Liaison Committee, Yong Loo Lin School of Medicine, National University of Singapore, SINGAPORE. Since March 2008

15. Member, Faculty Research Committee (MOH AcRF Tier 1 Grants), Yong Loo Lin School of Medicine, National University of Singapore, SINGAPORE. Since June 2010.

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B. External16. Scientific Advisor, Molecular Diagnosis Center, Department of Laboratory Medicine, National University

Hospital, SINGAPORE. Supervision of laboratory testing, checking and signing of test reports, and development of novel molecular diagnostic tests for common genetic disorders. Since 6/99

17. Organizer, Minisymposium on Genetic Epidemiology of Oral Clefting, April 9, 2001, Clinical Research Center, National University of Singapore, organized by Johns Hopkins Singapore and Department of Pediatrics, National University of Singapore, SINGAPORE.

18. Scientific Advisor, Pediatric Cytogenetics Service, Children’s Medical Institute, National University Hospital, SINGAPORE. Supervision of chromosome karyotyping and fluorescence in situ hybridization analysis, checking and signing of test reports. 7/01 – 6/03

19. Scientific Advisor, Clinical Cytogenetics Laboratory Services, Department of Laboratory Medicine, National University Hospital, SINGAPORE. Supervision of chromosome karyotyping and fluorescence in situ hybridization analysis, checking and signing of test reports. Since 1/07

20. Laboratory Credentialing Committee, National University Hospital, SINGAPORE. 8/02 – 3/0621. Director, Preimplantation Genetic Diagnosis Center, Children’s Medical Institute and Department of

Obstetrics & Gynecology, National University Hospital, SINGAPORE. Since 1/06C. National22. Cytogenetics Work Group Team Leader, Singapore Accreditation Council – Singapore Laboratory

Accreditation Scheme (SAC-SINGLAS) Medical Testing Workshop, 3 July 1999 – Orchid Country Club, SINGAPORE.

23. Human Genetics Subcommittee Member, Bio-Ethics Advisory Committee, SINGAPORE. January 2001 – December 2006.

24. Technical Assessor, Singapore Accreditation Council-Singapore Laboratory Accreditation Scheme, SPRING Singapore, SINGAPORE. Since 4/01

25. Council Member, 29th Council of the Singapore Society for Microbiology and Biotechnology. 200126. Vice-President, 30th Council of the Singapore Society for Microbiology and Biotechnology. 200227. Organizing Committee, 4th Combined Scientific Meeting, 15 – 18 January, 2003, Clinical Research Center,

National University of Singapore, SINGAPORE.28. National Medical Research Council Peer Review Subcommittee (Subcommittee 6 - Genetics/ Paediatrics/

Reproduction), SINGAPORE. May 2004 – July 2007.29. Judge, Singapore Science and Engineering Fair, Ministry of Education, Singapore Science Center, since

2005.30. Co-Chair, ICSI Workshop Break-Out Discussion Group E, 6 th Singapore Congress of Obstetrics and

Gynaecology, 21 March 2007

PEER REVIEWER FOR SCIENTIFIC JOURNALS Analytical Biochemistry – since 2009 Annals Academy of Medicine Singapore – since 2004 BMC Medical Genetics – since 2010 BMC Childbirth and Pregnancy – since 2011 Clinical Biochemistry – since 2005 Clinical Chemistry (published by the American Association for Clinical Chemistry) – since

2001 Clinica Chimica Acta – since 2008 Current Pharmacogenomics – since 2005 Electrophoresis European Journal of Haematology – since 2010 Genetic Testing and Molecular Biomarkers – since 2009 Human Mutation Journal of Chromatography B – since 2003 Journal of Clinical Pathology – since 2010 Journal of Medical Genetics – since 2005 Malaysian Journal of Medical Sciences – since 2009 Molecular and Cellular Probes – since 1997 Molecular Cytogenetics – since 2008 Molecular Human Reproduction – since 2009

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Singapore Medical Journal (Official journal of the Singapore Medical Association) – since 2010

International Journal of Laboratory Hematology (Official journal of the International Society for Laboratory Hematology) – since 2011

PEER REVIEWER FOR GRANT FUNDING AGENCIES National Medical Research Council (NMRC), Ministry of Health, Singapore Ministry of Education (MOE) Academic Research Fund (AcRF) Tier 1, Yong Loo Lin School of Medicine,

National University of Singapore Defense Medical Research Institute (DMRI), Singapore National Science Foundation (NSF), United States of America

INVITED TALKS20101. 10th Annual Conference of the Indian Society for Prenatal Diagnosis and Therapy (ISPAT2010) , 3-4 April

2010, J.W.Marriott Hotel, Mumbai, INDIA. Novel Strategies in Preimplantation Genetic Diagnosis of Alpha-Thalassemia and Chromosomal Translocations.

2. Agilent Asia Pacific Human Genetics User Summit 2010: Next Generation Technologies for Today’s Geneticists, 13-14 May 2010, Capella Hotel, Sentosa, SINGAPORE. Adapting Array-CGH for Single Cell 24 Chromosome Aneuploidy Screening and Preimplantation Genetic Diagnosis of Unbalanced Translocations.

3. Specialized Diagnostics Seminar and Workshops, 1-2 July 2010, National University Hospital, SINGAPORE. 1. Molecular Testing in Inherited Diseases. 2. Single Cell Preimplantation Genetic Diagnosis and Screening.

4. Medical Ethics Workshop – Choosing Children Through Assisted Reproduction? 24 September 2010, KK Women’s and Children’s Hospital and CENTRES (Clinical Ethics Network for Training, Research and Support), Centre for Biomedical Ethics, NUS, SINGAPORE. Clinical Indications and Applications of Pre-implantation Genetic Diagnosis and Screening.

20095. 7th Singapore International Congress of O&G – Integrating Basic Science onto the Art of Obstetrics and

Gynaecology, 26-29 June 2009, Marina Mandarin Hotel, SINGAPORE. Preimplantation Genetic Diagnosis – Studying All Chromosomes – Is More Better? Singapore Journal of Obstetrics & Gynaecology 40(2):51, 2009.

6. 3rd Meeting in Prenatal Screening and Diagnosis of Thalassemia, 4 December 2009, Equatorial Hotel, Ho Chi Minh City, VIETNAM. 1. Molecular Diagnosis and Prevention of Thalassemia in Singapore. 2. Preimplantation Aneuploidy Screening by FISH and Microarray CGH.

20087. International Conference on Medical & Community Genetics – Current Issues in Diagnosis,

Management, Genetic Counseling & Population Diversity, 15-17 February 2008, Chandigarh, INDIA. Preimplantation Genetic Diagnosis and Screening – Relevance to Pediatrics and Obstetrics. pp. 45

8. 5th International Symposium on Genetics, Health and Disease – Omics in the 21st Century, 17-19 February 2008, Amritsar, INDIA. Preimplantation Genetic Diagnosis of Inherited Disease – The Singapore Experience. pp. 18

9. Assisted Reproductive Techniques Workshop 2008, 5-7 June 2008, Gleneagles Hospital, SINGAPORE. Cytogenetics of embryos and PGD in ART.

10. Thalassemia International Conference 2008 – Equal Access to Quality Medical Care for Every Patient with Thalassemia (11th International Conference on Thalassemia and Hemoglobinopathies and 13 th

International TIF Conference For Thalassemia Patients and Parents) , 7-11 October 2008, SINGAPORE. Preimplantation Genetic Diagnosis – The Singapore Experience.

11. Community Genetics in Asia – Conference on Public Health and Community Health Services , 13-18 October 2008, Beijing, CHINA. 1. Preimplantation Genetic Diagnosis in Singapore – Past, Present, and Future. 2. Innovations in Molecular Diagnosis of Dynamic Mutation and Genomic Imprinting Disorders. pp. 14-15

200712. Updates in Laboratory Medicine 2007, 12-13 January 2007, Department of Laboratory Medicine,

National University Hospital, SINGAPORE. Cytogenetics in Diagnosis.

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13. Pre-Congress Workshop – 6th Singapore Congress in Obstetrics and Gynecology, 21 March 2007. KK Women’s and Children’s Hospital, Singapore. Breakout Discussion Group – PGD Techniques.

14. 6th Singapore Congress in Obstetrics and Gynecology, 21-25 March 2007, Conrad Centennial Hotel, Singapore. Session 6: Assisted Reproductive Technologies. Preimplantation Genetic Diagnosis/Screening – Its Place in Modern Day ART.

15. NUH Children’s Medical Institute and NUS Department of Pediatrics Continuing Medical Education Program, 9 May 2007, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis and Screening.

200616. Assisted Reproductive Techniques Workshop 2006, 12-13 May 2006, Gleneagles Hospital, SINGAPORE.

Preimplantation Genetic Diagnosis.17. Singapore Eye Research Institute (SERI) Seminar Series, 5 June 2006, Singapore National Eye Center,

SINGAPORE. Preimplantation Genetic Diagnosis – The Local Perspective.18. National Healthcare Group (NHG) Annual Scientific Congress (ASC) 2006 , 30 September – 1 October

2006, Raffles City Convention Center, SINGAPORE. Symposium on Prenatal Screening – Current State of the Art. Screening for Single Gene Disorders.

19. 1st Molecular Biology Techniques for Clinical Applications Workshop , organized by the Clinician Scientist Unit (CSU), a division of the NUS Leadership in Academic Medicine (NLAM) Program, 4-5 October 2006, Clinical Research Centre, Yong Loo Lin School of Medicine, National University of Singapore, SINGAPORE. Sequencing, Minisequencing, and Microsatellite Analysis in Genetic Testing.

20. NUH Children’s Medical Institute and NUS Department of Pediatrics Continuing Medical Education Program, 25 October 2006, National University Hospital, SINGAPORE. Prenatal and Preimplantation Genetic Diagnosis of Alpha and Beta Thalassemia.

21. Preimplantation Genetic Diagnosis Seminar, organized by the Reproductive Medicine Unit & KKIVF Center, 1 December 2006, KK Women’s and Children’s Hospital, Singapore. Single Cell PGD Strategies for Avoidance of Alpha- and Beta-Thalassemia.

200522. Life Sciences Seminar Series, 2 March 2005, Ngee Ann Polytechnic, SINGAPORE. Applications of Genetics

in Medicine – Molecular Diagnosis Of - And -Thalassemia.23. International Genetic Epidemiology of Oral Clefts 2nd Annual Meeting, 27 – 28 March 2005, Peking

University Health Science Center, Beijing, PRC. DNA Processing/Storage at NUS.24. Life Sciences Seminar Series, 24 June 2005, Ngee Ann Polytechnic, SINGAPORE. Applications of Genetics

in Medicine – Molecular Diagnosis of - and -Thalassemia.25. NUH Children’s Medical Institute and NUS Department of Pediatrics Continuing Medical Education

Program, 13 July 2005, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis in Singapore – Logic and Logistics.

26. Pre-Congress Workshop – 10th International Congress of Pediatric Laboratory Medicine, 3 – 6 September 2005, KK Women’s and Children’s Hospital, SINGAPORE. Preimplantation Genetic Diagnosis.

27. Singapore-Bangalore Biomedical Symposium, 8 – 9 September 2005, Biopolis, SINGAPORE. Molecular Genetics and Diagnosis of Alpha- and Beta-Thalassemia. pp. 42-43

28. Singapore Association for Medical Laboratory Sciences 16 th Annual Scientific Meeting, 4 December 2005, Singapore Polytechnic, SINGAPORE. Preimplantation Genetic Diagnosis.

200429. 17th International Pakistan Pediatric Conference, 19 – 22 February 2004, Lahore, PAKISTAN. Molecular

Diagnosis of - and -Thalassemia – New Technologies for Old Diseases. (trip cancelled due to family reasons)

30. Community Genetics in Asia – 1st Asian Workshop on Genomics and Community Genetics, 10 – 22 April 2004, Shenzhen, CHINA. Genetic Medicine in Relation to Thalassemia.

31. Malaysian Pediatric Association 1st National Thalassemia Seminar, 8 – 9 May 2004, Kuala Lumpur, MALAYSIA. Preimplantation Genetic Diagnosis: Approaches and Implications on Prevention of Thalassemia.

32. World Best Practice in Thalassemia Management – Educational Symposium sponsored by Novartis Oncology –, 7 August 2004, Fremantle, AUSTRALIA. Molecular Diagnosis of Thalassemia.

33. Genetics and Population Health Conference – The Australian Public Health Genetics Consortium , 8 – 10 August 2004, Fremantle, AUSTRALIA. New Strategies for DNA Diagnosis and Single Cell PGD of Fragile X Mental Retardation Syndrome.

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34. 8th NUS-NUH Annual Scientific Meeting, 7 – 8 October 2004, Clinical Research Center, National University of Singapore, SINGAPORE. Symposium on "Human Genetics and Its Application in Health and Disease". Advances in Molecular Diagnosis of Inherited Disorders - The Thalassemias as a Paradigm.

35. NUH Children’s Medical Institute and NUS Department of Pediatrics Continuing Medical Education Program, 11 November 2004, National University Hospital, SINGAPORE. Advances in Molecular Diagnosis of Fragile X Syndrome.

36. NUH Department of Laboratory Medicine Continuing Medical Education Program, 2 November 2004, National University Hospital, SINGAPORE. Molecular Diagnosis of Fragile X Syndrome – Past, Present, And Future.

200337. NUH Cancer Institute and Department of Hematology & Oncology Research Meeting , 10 January 2003.

National University Hospital, SINGAPORE. Techniques For Discovery And Genotyping Of Mutations And Variations In DNA.

38. International Association for Dental Research (Singapore Section) Annual General Meeting , 27 February 2003, Faculty of Dentistry, National University Hospital, SINGAPORE. The Complex Genetics of Craniofacial Malformations.

39. NUH Department of Laboratory Medicine Continuing Medical Education Program, 2 September 2003, National University Hospital, SINGAPORE. Molecular Diagnosis of Thalassemia.

40. Society of Transplantation (Singapore) Annual Scientific Meeting, 15 November 2003, Swissotel The Stamford, SINGAPORE. Ethical and Social Issues of Genomic Medicine.

200241. NUH Department of Laboratory Medicine Medical Education Program, 15 March 2002, National

University Hospital, SINGAPORE. Thalassemia Genetics and Molecular Diagnostics.42. Australasian Thalassemia Workshop, 21 – 22 March 2002, Hollywood Private Hospital, Perth, WA,

AUSTRALIA. Diagnostic Testing Strategies for Thalassemia using Molecular Techniques.43. Edinburgh – NUS Life Sciences Link Workshop, 15 April 2002, Clinical Research Center, Faculty of

Medicine, National University of Singapore, SINGAPORE. Human and Molecular Genetics Research Program in NUS.

44. ART 2002 – IVF and Micromanipulation for ART Specialists, 17 – 21 June 2002, Department of Obstetrics & Gynecology, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis.

45. 1st NHG Scientific Congress, 17 – 18 August 2002, Grand Copthorne Waterfront Hotel, SINGAPORE. Towards Identification of Genes Predisposing to Non-Syndromic Oral Clefting.

46. NUH Antenatal Diagnostic & Management Group Meeting, 17 September 2002, National University Hospital, SINGAPORE. Genetic Chromosomal Analysis.

47. NUH Children’s Medical Institute Pediatric Hematology / Oncology Meeting , 25 September 2002, National University Hospital, SINGAPORE. Simplifying Molecular Genetic Testing for - and -Thalassemia.

48. NUH Children’s Medical Institute and NUS Department of Pediatrics Continuing Medical Education Program, 21 December 2002, National University Hospital, SINGAPORE. Thalassemia Molecular Diagnostics.

200149. Genomics & Gene Therapy – Singapore Society for Microbiology & Biotechnology Annual Scientific

Meeting, 27 January 2001, National University of Singapore, SINGAPORE. The Next Phase of the Human Genome Project: Functional Genomics and the Role of the Zebrafish.

50. Preimplantation Genetic Diagnosis (PGD) Symposium, 6 – 7 April 2001, Center for Assisted Reproduction, Singapore General Hospital, SINGAPORE. Single Cell PCR for -Thalassemia.

51. International Genetic Epidemiology of Oral Clefts 2nd Organization Meeting, 9 – 10 April 2001, Johns Hopkins Singapore Pte. Ltd., SINGAPORE. Genotyping Resources in the Human & Molecular Genetics Laboratory.

52. NUH Children’s Medical Institute Pediatric Hematology / Oncology Meeting, 18 April 2001, National University Hospital, SINGAPORE. Thalassemia Diagnostic Development.

53. 12th (International) Course on Assisted Reproductive Techniques, 14 – 18 May 2001, Department of Obstetrics & Gynecology, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis.

54. 7th (International) Advanced Course on Micromanipulation , 29 May – 1 June 2001, Department of Obstetrics & Gynecology, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis of Mendelian Disorders.

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55. NUH Children’s Medical Institute and NUS Department of Pediatrics Continuing Medical Education Program, 8 December 2001, National University Hospital, SINGAPORE. Trinucleotide Repeat Expansions in Mental Retardation and Neuro/Muscular Degeneration.

200056. 11th (International) Course on Assisted Reproductive Techniques , 8 – 12 May 2000, Department of

Obstetrics & Gynecology, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis.57. 6th (International) Advanced Course on Micromanipulation , 22 – 25 May 2000, Department of Obstetrics

& Gynecology, National University Hospital, SINGAPORE. Molecular Methods for the Detection of Single Gene Defects and Dominant Disorders.

58. International Genetic Epidemiology of Oral Clefts 1st Organization Meeting, 2 October 2000, Johns Hopkins University School of Public Health, Baltimore, MD, USA. Plans for 2nd Genetic Epidemiology of Oral Clefts Meeting in Singapore.

59. 1st Workshop and Lecture Series: Molecular Genetics of Reproductive Disorders, 16 – 20 October 2000, Department of Obstetrics & Gynecology, National University of Singapore, SINGAPORE. Single Cell Analysis of Single Gene Disorders for Preimplantation Genetic Diagnosis.

60. Invited Seminar, 22 December 2000, Center for Assisted Reproduction, Singapore General Hospital, SINGAPORE. Towards PGD of -Thalassemia.

199961. 10th (International) Course on Assisted Reproductive Techniques, 16 – 22 May 1999, Department of

Obstetrics & Gynecology, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis.62. 5th (International) Advanced Course on Micromanipulation , 31 May – 3 June 1999, Department of

Obstetrics & Gynecology, National University Hospital, SINGAPORE. Preimplantation Genetic Diagnosis – I. Application and II. Methodology.

199863. 17th United Leukodystrophy Foundation Symposium on Probing White Matter Disorders, 21 – 26 July

1998, Dekalb, IL, USA. DNA Techniques for Heterozygote Detection in X-Linked Adrenoleukodystrophy.199764. 10th World Congress on In Vitro Fertilization and Assisted Reproduction , 24 – 28 May 1997, Vancouver,

CANADA. Single Cell Analysis of Triplet Repeat Expansion Mutations including Huntington Disease and Myotonic Dystrophy.

199565. Workshop on Identification of Human Disease Genes: 1995, NIH Research Festival, 18 – 22 Sep 1995,

Bethesda, MD, USA. Definition of a Minimal Critical Region for the Isolated Lissencephaly Sequence Gene on Chromosome 17p13.3 by Systematic Deletion Analysis of MDS and ILS Patients.

DISSERTATIONSBSc (Hons) Thesis: A Revision Of Some Malaysian Species Of The Genus Macrobrachium Bate, 1868

(Decapoda:Palaemonidae). Department of Zoology, Faculty of Science, National University of Singapore, SINGAPORE (1986). Thesis advisors: Hong-Woo KHOO, PhD, and Dennis H. MURPHY, BSc (Hons).

MSc Thesis: Transgenic Fish - Fate, Uptake, Expression, And Germline Transmission Of Exogenous Genes Microinjected Into Early Embryos Of The Japanese Killifish Oryzias latipes (Temminck et Schlegel). Department of Zoology, Graduate School of Biological Sciences, University of British Columbia, Vancouver, CANADA (1988). Thesis committee: David RANDALL, PhD (co-advisor), and Juergen R. VIELKIND, PhD (co-advisor), Hugh BROCK, PhD, Edward M. DONALDSON, PhD.

PhD Thesis: Molecular Genetic Analyses In Single Cells And Molecular Analysis Of A Mammalian Renal Sodium-Phosphate Cotransporter. Department of Molecular and Human Genetics, Graduate School of Biomedical Sciences, Baylor College of Medicine, Houston, TX, USA (1994). Thesis committee: Mark R. HUGHES, MD, PhD (advisor), William E. O'BRIEN, PhD, A. Craig CHINAULT, PhD, and Rodney E. KELLEMS, PhD.

PUBLICATIONSA. Book Chapters1. Vielkind JR, Chong SS, Stuart GW, Sadaghiani B. Transgenic medaka and zebrafish systems: Transient and

inherited expression of a recombinant CAT reporter gene microinjected into fertilized eggs. In New Trends in Ichthyology (JH Schroder, ed.), Munchen-Neuherberg, West Germany, 1989.

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2. Chong SS, Hughes MR. Pfu polymerase-mediated amplification and ethidium-visible detection of the fragile X syndrome CGG repeat. In PCR: Essential Techniques (JF Burke, ed.), John Wiley & Sons, Inc., Oxford, UK, 1996, pp. 41-43.

3. Chong SS, Gore-Langton RE, Hughes MR. Single-cell DNA analysis for application to preimplantation genetic diagnosis. In Current Protocols in Human Genetics, Supplement 10 (NC Dracopoli et al., eds.), John Wiley & Sons, Inc., Brooklyn, NY, 1996, pp. 9.10.1-9.10.26.

4. Chong SS, Liu L, Hughes MR. Single cell analysis of trinucleotide repeat expansion mutations in Huntington disease, spinocerebellar ataxia type 1, and myotonic dystrophy. In Proceedings of the 10th

World Congress on In Vitro Fertilization and Assisted Reproduction (PCK Leung and V Gomel, eds.), Monduzzi Editore Sp.A., Bologna, Italy, 1997, pp. 751-757.

5. Chong SS, Cheah FSH, Jabs EW. Genes implicated in lip and palate development. In Cleft Lip and Palate: From Origin to Treatment (DF Wyszynski, ed.), Oxford University Press, New York, NY, 2002, pp. 25-39. This book was selected by the American Association of Publishers/Professional Scholarly Publishing for the AAP/PSP Award, for Excellence in Scholarly Publishing within Clinical Medicine.

6. Chong SS, Gore-Langton RE, Hughes MR, Miron PM. Single-Cell DNA and FISH analysis for application to preimplantation genetic diagnosis. In Current Protocols in Human Genetics, Supplement 32 (JL Haines et al., eds.), John Wiley & Sons, Inc., Brooklyn, NY, 2002, pp. 9.10.1-9.10.33.

7. Chong SS, Gore-Langton RE, Hughes MR, Weremowicz S. Single-Cell DNA and FISH analysis for application to preimplantation genetic diagnosis. In Current Protocols in Human Genetics, John Wiley & Sons, Inc., Brooklyn, NY, 2010 Jan; Chapter 9:Unit9.10.

8. Ng JKK, Chong SS. Multiplexing capabilities of biosensors for clinical diagnostics. In Biosensors for Health, Environment and Biosecurity / Book 2 (Pier Andrea Serra, ed.), InTech Open Access Publisher, Croatia, 2011 (in press).

B. Regional/Local Peer-Reviewed Publications1. Ng PKL, Chong SSC. A note on the taxonomy and larvae of the acid water prawn, Macrobrachium trompii

(De Man, 1898) (Crustacea: Decapoda: Caridea: Palaemonidae). Malayan Nature Journal 46:119-129 (1992).

2. Kao S-L, Chong SS, Lee CGL. The role of single nucleotide polymorphisms (SNPs) in understanding complex disorders and pharmacogenomics. Annals Academy of Medicine Singapore 29:376-382 (2000).

3. Tan NC, Zhou Y, Tan ASC, Chong SS, Lee WL. Spinocerebellar ataxia type 2 with focal epilepsy – an unusual association. Annals Academy of Medicine Singapore 33:103-106 (2004).

4. Ho JFV, Ho SSY, Chua WR, Heng CK, Loganath A, Lee CG, Ng SY, Biswas A, Choolani MA, Chong SS, Chong YS. Lack of association of the Asp298 variant of the endothelial nitric oxide synthase gene with pre-eclampsia in a Malay population. Singapore Journal of Obstetrics and Gynecology 36:26-30 (2005).

5. Lee LY, Quek SC, Chong SS, Tan ASC, Lum JMS, Goh DLM. Clinical report: A case of Williams syndrome and Klinefelter syndrome. Annals Academy of Medicine Singapore 35:901-904 (2006).

6. Yap CHA, Tan ASC, Wang W, Lim MN, Chong SS. First successful preimplantation genetic diagnosis in Singapore – Avoidance of -thalassemia major. Annals Academy of Medicine Singapore 38:720-723 (2009).

7. Yap CHA, Wang W, Tan ASC, Tan WC, Lim MN, Chong SS. Successful preimplantation genetic diagnosis of haemoglobin Bart’s hydrops foetalis syndrome in Singapore after fresh and frozen embryo replacement cycles. Annals Academy of Medicine Singapore 38:910-913 (2009).

C. Other Regional/Local Publications1. Chong SSC, Lim KC. Caecilians on Mount Ophir. Nature Malaysiana 10(4):24-25 (1985).2. Chong SSC, Murphy DH. The Master Camoufleurs: 1. The Grouse Locust. Nature Malaysiana 11(1):10-11

(1986).3. Chong SSC, Sigurdson JB. The Master Camoufleurs: 2. Plant Animals. Nature Malaysiana 11(1):12-13

(1986).4. Chong SSC, Murphy DH. The Master Camoufleurs: 3. Dead or Alive. Nature Malaysiana 11(1):14-15

(1986).5. Chong SSC, Ng PKL. The Master Camoufleurs: 4. A Living Roof. Nature Malaysiana 11(1):16-17 (1986).6. Ng PKL, Chong SS. The freshwater crabs and prawns of Pulau Tioman. Nature Malaysiana 11(3):26-31

(1986).

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7. Chong SS. The next phase of the Human Genome Project: functional genomics and the role of the zebrafish. Singapore Microbiologist – Microbiology & Biotechnology News Apr-Jun: 11-12 (2001).

D. International Peer-Reviewed Publications1. Chong SSC, Khoo HW. Abbreviated larval development of the freshwater prawn Macrobrachium

pilimanus (De Man, 1879) (Decapoda, Palaemonidae), reared in the laboratory. Journal of Natural History 21:763-774 (1987).

2. Chong SSC, Khoo HW. Macrobrachium malayanum (Roux, 1934) stat. nov. (Decapoda, Palaemonidae) as a synonym of M. geron Holthuis, 1950, with notes on its distribution. Journal of Natural History 21:903-913 (1987).

3. Chong SSC, Khoo HW, Ng PKL. Presence of the Japanese freshwater prawn Macrobrachium nipponense (De Haan, 1849) (Decapoda: Caridea: Palaemonidae) in Singapore. Zoologische Mededelingen Leiden 61(22):313-317 (1987).

4. Chong SSC, Khoo HW. A new species of freshwater prawn, Macrobrachium johnsoni spec. nov. (Decapoda: Caridea: Palaemonidae) from Peninsular Malaysia, and a description of its first zoea. Zoologische Mededelingen Leiden 61(25):359-370 (1987).

5. Chong SSC, Khoo HW. Macrobrachium ahkowi nom. nov. (Decapoda: Caridea: Palaemonidae) as a replacement name of M. johnsoni Chong and Khoo, 1987, preoccupied by M. johnsoni Ravindranath, 1979. Zoologische Mededelingen Leiden 61(37):561-562 (1987).

6. Chong SSC, Khoo HW. The abbreviated larval development of the freshwater prawn, Macrobrachium malayanum (Roux, 1934) (Decapoda, Palaemonidae) reared in the laboratory. Crustaceana 53(1):29-42 (1987).

7. Chong SSC, Khoo HW. The identity of Macrobrachium lanchesteri (De Man, 1911) (Decapoda: Palaemonidae) from Peninsular Malaysia and Singapore, and a description of its first zoea. Crustaceana 54(2):196-206 (1988).

8. Chong SSC. A new species of freshwater prawn, Macrobrachium gua spec. nov. (Decapoda: Caridea: Palaemonidae) from Sabah, East Malaysia, Borneo. Crustaceana 56(1):31-38 (1989).

9. Chong SSC, Vielkind JR. Expression and fate of CAT reporter gene microinjected into fertilized medaka (Oryzias latipes) eggs in the form of plasmid DNA, recombinant phage particles and its DNA. Theoretical and Applied Genetics 78:369-380 (1989).

10. Chong SS, Kristjansson K, Zoghbi HY, Hughes MR. Molecular cloning of the cDNA encoding a human renal sodium-phosphate transport protein and its assignment to chromosome 6p21.3-p23. Genomics 18:355-359 (1993).

11. Chong SS, Kristjansson K, Cota J, Handyside AH, Hughes MR. Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Human Molecular Genetics 2(8):1187-1191 (1993).

12. Kristjansson K,† Chong SS,† Van den Veyver IB, Snabes MC, Hughes MR. Preimplantation analyses for dystrophin gene deletions after single cell whole genome amplification. Nature Genetics 6:19-24 (1994). †Joint first authors

13. Van den Veyver IB, Chong SS, Kristjansson K, Snabes MC, Moise KJ Jr, Hughes MR. Molecular analysis of human platelet antigen system 1 antigen on single cells can be applied to preimplantation genetic diagnosis for prevention of alloimmune thrombocytopenia. American Journal of Obstetrics and Gynecology 170:807-812 (1994).

14. Chong SS, Eichler EE, Nelson DL, Hughes MR. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. American Journal of Medical Genetics 51:522-526 (1994).

15. Snabes MC, Chong SS, Subramanian S, Kristjansson K, DiSepio D, Hughes MR. Preimplantation single cell analysis of multiple genetic loci using whole genome amplification. Proceedings of the National Academy of Sciences USA 91:6181-6185 (1994).

16. Van den Veyver IB, Chong SS, Cota J, Bennett PR, Fisk NM, Handyside AH, Cartron J-P, Le Van Kim C, Colin Y, Snabes MC, Moise KJ Jr, Hughes MR. Single cell analysis of the Rhesus D blood type for use in preimplantation diagnosis in the prevention of severe hemolytic disease of the newborn. American Journal of Obstetrics and Gynecology 172:533-540 (1995).

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17. Chong SS, Kozak CA, Liu L, Kristjansson K, Dunn T, Bourdeau JE, Hughes MR. Cloning, genetic mapping, and expression analysis of a mouse renal sodium-dependent phosphate cotransporter. American Journal of Physiology – Renal Physiology 268:F1038-F1045 (1995).

18. Chong SS, McCall AE, Subramony SB, Cota J, Orr HT, Hughes MR, Zoghbi HY. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genetics 10:344-350 (1995).

19. Chong SS, Tanigami A, Roschke AV, Ledbetter DH. 14-3-3 epsilon has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dieker syndrome chromosome region. Genome Research 6:735-741 (1996).

20. Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith ACM, Dobyns WB, Ledbetter DH. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Human Molecular Genetics 6:147-155 (1997).

21. Lo Nigro C,† Chong SS,† Smith ACM, Dobyns WB, Carrozzo R, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-

Dieker syndrome. Human Molecular Genetics 6:157-164 (1997). †Joint first authors22. Chong SS, Almqvist E, Telenius H, La Tray L, Nichols K, Bourdelat-Parks B, Goldberg YP, Haddad BR,

Richards F, Sillence D, Greenberg C, Ives E, Van den Engh G, Hughes MR, Hayden MR. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Human Molecular Genetics 6:301-309 (1997).

23. Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, Ledbetter DH, Wynshaw-Boris A. Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region. Genome Research 7:625-634 (1997).

24. Higgs DR, Ayyub H, Chong SS. The --THAI and --FIL determinants of thalassemia in Taiwan. American Journal of Hematology 60:80-81 (1999).

25. Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Molecular Genetics and Metabolism 66:128-136 (1999).

26. Chong SS, Boehm CD, Cutting GR, Moser HW. Molecular strategies for heterozygote detection in X-linked adrenoleukodystrophy. In Proceedings of the 1998 United Leukodystrophy Foundation Symposium on “Probing White Matter Disease” (Moser HW, Matalon R, Kohler W, Tager J, eds.). Journal of Molecular Neuroscience 13:214-216 (1999).

27. Kozma C, Chong SS, Meck JM. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia. American Journal of Medical Genetics 86:316-320 (1999).

28. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of -thalassemia. Blood, 95:360-362 (2000).

29. Chong SS, Boehm CD, Cutting GR, Higgs DR. Simplified multiplex-PCR diagnosis of common Southeast Asian deletional determinants of -thalassemia. Clinical Chemistry 46:1692-1695 (2000).

30. Tan ASC, Quah TC, Low PS, Chong SS. A rapid and reliable seven-deletion multiplex-PCR assay for -thalassemia. Blood 98:250-251 (2001).

31. Tang K, Ngoi S-M, Gwee P-C, Chua JMZ, Lee EJD, Chong SS, Lee CGL. Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics and Genomics 12:437-450 (2002).

32. Wang W, Tan ASC, Chong SS. Reconstituted -thalassemia genomic samples as positive controls for the molecular diagnostic laboratory. Clinical Chemistry 48:952-955 (2002).

33. Wang W, Kham SKY, Yeo GH, Quah TC, Chong SS. Multiplex-minisequencing screen for common Southeast Asian and Indian -thalassemia mutations. Clinical Chemistry 49:209-218 (2003).

34. Gwee P-C, Tang K, Chua JMZ, Lee EJD, Chong SS, Lee CGL. Simultaneous genotyping of seven single nucleotide polymorphisms (SNPs) of the MDR1 gene by single-tube multiplex minisequencing. Clinical Chemistry 49:672-676 (2003).

35. Wang W, Ma ESK, Chan AYY, Chui DHK, Chong SS. Multiplex-minisequencing screen for seven Southeast Asian non-deletional -thalassemia mutations. Clinical Chemistry 49:800-803 (2003).

36. Wang W, Ma ESK, Chan AYY, Prior J, Erber WN, Chan LC, Chui DHK, Chong SS. Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 -globin gene triplications. Clinical Chemistry 49:1679-1682 (2003).

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37. Lee CGL, Chong SS, Lee EJD. Pharmacogenetics of the human MDR1 multidrug transporter. Current Pharmacogenomics 2:1-11 (2004) review.

38. Zhou Y, Law HY, Boehm CD, Yoon CS, Cutting GR, Ng ISL, Chong SS. Robust fragile X (CGG)n genotype classification using a methylation-specific triple PCR assay. Journal of Medical Genetics 41:e45 (2004).

39. Tang K, Wong LP, Lee EJD, Chong SS, Lee CGL. Genomic evidence for recent positive selection at the human MDR1 gene locus. Human Molecular Genetics 13(8):783-797 (2004).

40. Lee CGL, Tang K, Cheung YB, Wong LP, Tan C, Shen H, Zhao Y, Pavanni R, Lee EJD, Wong MC, Chong SS, Tan EK. MDR1, the blood-brain barrier transporter, is associated with Parkinson’s disease in ethnic Chinese. Journal of Medical Genetics 41:e60 (2004).

41. Tan EK, Drozdzik M, Bialecka M, Honczarenko K, Klodowska-Duda G, Teo YY, Tang K, Wong LP, Chong SS, Tan C, Yew K, Zhao Y, Lee CGL. Analysis of MDR1 haplotypes in Parkinson’s disease in a white population. Neuroscience Letters 372:240-244 (2004).

42. Kham SK, Quah TC, Loong AM, Tan PL, Fraser A, Chong SS, Yeoh EJ. A molecular epidemiologic study of thalassemia using newborns' cord blood in a multiracial Asian population in Singapore: Results and recommendations for a population screening program. Journal of Pediatric Hematology Oncology 26:817-819 (2004).

43. Gwee PC, Tang K, Sew PH, Lee EJD, Chong SS, Lee CGL. Strong linkage disequilibrium at the nucleotide analogue transporter ABCC5 gene locus. Pharmacogenetics and Genomics 15:91-104 (2005).

44. Sutcharitchan P, Wang W, Settapiboon R, Amornsiriwat S, Tan ASC, Chong SS. Hemoglobin H disease classification by isoelectric focusing – Molecular verification of 110 cases from Thailand. Clinical Chemistry 51:641-644 (2005).

45. Tan EK, Chan DKY, Ng PW, Woo J, Teo YY, Tang K, Wong LP, Chong SS, Tan C, Shen H, Zhao Y, Lee CGL. Effect of MDR1 haplotype on risk of Parkinson disease. Archives of Neurology 62:460-464 (2005).

46. Wei CL, Cheung W, Heng CK, Arty N, Chong SS, Lee BW, Puah KL, Yap H-K. Interleukin-13 genetic polymorphisms in Singapore Chinese children correlate with long-term outcome of minimal-change disease. Nephrology Dialysis Transplantation 20:728-734 (2005).

47. Cheah FSH, Jabs EW, Chong SS. Genomic, cDNA and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgf3). Developmental Dynamics 232:1021-1030 (2005).

48. Wang B, Ren J, Ooi LLPJ, Chong SS, Lee CGL. Dinucleotide repeats negatively modulate the promoter activity of Cyr61 and is unstable in hepatocellular carcinoma patients. Oncogene 24:3999-4008 (2005).

49. Ben J, Jabs EW, Chong SS. Genomic, cDNA and embryonic expression analysis of the zebrafish ortholog of the Van der Woude syndrome and popliteal pterygium syndrome gene IRF6. Gene Expression Patterns 5:629-638 (2005).

50. Wang Z, Wang B, Tang K, Lee EJD, Chong SS, Lee CGL. A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection. Human Molecular Genetics 14:2075-2087 (2005).

51. Rajashekhar G, Loganath A, Roy AC, Chong SS, Wong YC. Hypoxia upregulated angiogenin and downregulated VCAM-1 expression and secretion in human placental trophoblasts. Journal of the Society for Gynecologic Investigation 12:310-319 (2005).

52. Beaty TH, Fallin MD, Hetmanski JB, McIntosh I, Chong SS, Ingersoll R, Sheng X, Chakraborty R, Scott AF. Haplotype diversity in 11 candidate genes across 4 populations. Genetics 171:259-267 (2005).

53. Rajashekhar G, Loganath A, Roy AC, Chong SS, Wong YC. Extracellular matrix-dependent regulation of angiogenin expression in human placenta. Journal of Cellular Biochemistry 96:36-46 (2005).

54. Wang W, Chan AYY, Chan LC, Ma ESK, Chong SS. Unusual rearrangement of the -globin gene cluster containing both the -3.7 and anti4.2 crossover junctions – clinical diagnostic implications and possible mechanisms. Clinical Chemistry 51:2167-2170 (2005).

55. Chan AYY, Luo HY, Wang W, Chui DHK, Ma ESK, Chan LC, Chong SS. Diagnostic pitfall in PCR-based -thalassemia genotyping due to a (GC) polymorphism at nt71 3’ to the 2-globin gene termination codon. Clinical Chemistry 52:536-537 (2006).

56. Law HY, Luo HY, Wang W, Ho JFV, Najmabadi H, Ng ISL, Steinberg MH, Chui DHK, Chong SS. Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events? Haematologica 91:297-302 (2006).

57. Ren J, Kan A, Leong SH, Ooi LLPJ, Jeang K-T, Chong SS, Kon OL, Lee CGL. FAT10 plays a role in the regulation of chromosomal stability. Journal of Biological Chemistry 281:11413-11421 (2006).

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58. Wang Z, Sew PH, Ambrose H, Ryan S, Chong SS, Lee EJD, Lee CGL. Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region. BMC Genomics 7:111 (2006).

59. Zhou Y, Lum JMS, Yeo GH, Kiing J, Tay SKH, Chong SS. Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation specific PCR and GeneScan analysis. Clinical Chemistry 52:1492-1500 (2006).

60. Wang B, Ngoi S, Wang J, Chong SS, Lee CGL. The promoter region of the MDR1 gene is largely invariant, but different single nucleotide polymorphism haplotypes affect MDR1 promoter activity differently in different cell lines. Molecular Pharmacology 70:267-276 (2006).

61. Ngiam NSP, Chong SS, Shek LPC, Goh DLM, Ong KC, Chng SY, Yeo GH, Goh DYT. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease – a pilot study. Journal of Cystic Fibrosis 5:159-164 (2006).

62. Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal ER-to-Golgi trafficking. Nature Genetics 38:1192-1197 (2006).

63. Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, VanderKolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FSH, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng ISL, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Human Genetics 120:501-518 (2006).

64. Zhou Y, Tang K, Law HY, Ng ISL, Lee CGL, Chong SS. FMR1 CGG repeat patterns and flanking haplotypes in three Asian populations and their relationship with repeat instability. Annals of Human Genetics 70:784-796 (2006).

65. Ho SSY, Chong SS, Koay ESC, Chan YH, Sukumar P, Chiu L, Wang W, Roy A, Rauff M, Su LL, Biswas A, Choolani M. Microsatellite markers within --SEA breakpoints for prenatal diagnosis of HbBarts hydrops fetalis. Clinical Chemistry 53:173-179 (2007).

66. Quek DL, Ng YY, Wang W, Tan ASC, Tang-Lim GI, Ng ISL, Law HY, Chong SS. Rapid carrier screening for -thalassemia by single-step allele-specific PCR and detection. Clinical Biochemistry 40:427-430 (2007).

67. Park JW, McIntosh I, Hetmanski JB, Jabs EW, VanderKolk C, Wu-Chou YH, Chen KT, Chong SS, Jee SH, Park BY, Fallin MD, Ingersoll R, Scott AF, Beaty TH. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in 4 populations. Genetics in Medicine 9:219-227 (2007).

68. Wang Z, Wang J, Tantoso E, Wang B, Tai AYP, Ooi LLPJ, Chong SS, Lee CGL. Signatures of recent positive selection at the ATP-binding cassette (ABC) drug transporter superfamily gene loci. Human Molecular Genetics 16:1367-1380 (2007).

69. Goh DLM, Zhou Y, Chong SS, Ngiam NSP, Goh DYT. Novel CFTR gene mutation in a patient with CBAVD. Journal of Cystic Fibrosis 6:423-425 (2007).

70. Yeo GH, Cheah FSH, Jabs EW, Chong SS. Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors. Development Genes and Evolution 217:783-789 (2007).

71. Wang Z, Chong SS, Lee CGL. Characterization of single nucleotide polymorphisms in 13 members of the ABC drug transporter genes in three different populations. The Open Pharmacology Journal 1:1-12 (2007).

72. Tan CY, Ho JFV, Chong YS, Loganath A, Chan YH, Ravichandran J, Lee CG, Chong SS. Paternal contribution of HLA-G*0106 significantly increases risk for pre-eclampsia in multigravid pregnancies. Molecular Human Reproduction 14:317-324 (2008).

73. Teo CRL, Wang W, Law HY, Lee CG, Chong SS. Single-step scalable throughput molecular screening for Huntington disease. Clinical Chemistry 54:964-972 (2008).

74. Koga A, Cheah FSH, Hamaguchi S, Yeo GH, Chong SS. Germline transgenesis of zebrafish using the medaka Tol1 transposon system. Developmental Dynamics 237:2466-2474 (2008).

75. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. American Journal of Medical Genetics Part A 146A:2327-2331 (2008).

76. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Jung E, Ruczinski I, Scott AF, Beaty TH. Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations. Genetic Epidemiology 32:505-512 (2008).

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77. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Maternal transmission effects of the PAX gene among cleft case-parent trios from four populations. European Journal of Human Genetics 17:831-839 (2009).

78. Yeo GH, Cheah FSH, Winkler CW, Jabs EW, Venkatesh B, Chong SS. Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family. Development Genes and Evolution 219:289-300 (2009).

79. Wang W, Law HY, Chong SS. Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific quantitative melting analysis. Journal of Molecular Diagnostics 11:446-449 (2009).

80. Sull JW, Liang KY, Hetmanski JB, Wu T, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. Human Genetics 126:385-394 (2009).

81. Tan CY, Chong YS, Loganath A, Chan YH, Ravichandran J, Lee CG, Chong SS. Possible gene-gene interaction of KIR2DL4 with its cognate ligand HLA-G in modulating risk for pre-eclampsia. Reproductive Sciences 16:1135-1143 (2009).

82. Wang Z, Wang J, Chong SS, Lee CG. Mining potential functinally significant polymorphisms at the ATP-binding-cassette transporter genes. Current Pharmacogenomics 7:40-58 (2009).

83. Wang Z, Sew P-H, Chong SS, Lee CG. Realtime Exonuclease-mediated Allelic Discrimination (READ): A simple homogeneous genotyping assay for SNPs at the ABC gene loci. Pharmacogenomics 10:1995-2001 (2009).

84. Ng JK, Wang W, Liu W-T, Chong SS. Spatially addressable bead-based biosensor for rapid detection of beta-thalassemia mutations. Analytica Chimica Acta 658:193-196 (2010).

85. Ho SSY, Chong SS, Koay ESC, Ponnusamy S, Chiu L, Chan YH, Rauff M, Baig S, Chan J, Su LL, Biswas A, Hahn S, Choolani M. Noninvasive prenatal exclusion of hemoglobin Bart’s using fetal DNA from maternal plasma. Prenatal Diagnosis 30:65-73 (2010).

86. Ingersoll RG, Hetmanski J, Park J-W, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH. Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. European Journal of Human Genetics 18:726-732 (2010).

87. Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SJ, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral A, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox A, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Doheny K, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. A genome wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genetics 42:525-529 (2010).

88. Cheah FSH, Winkler CW, Jabs EW, Chong SS. tgf3 regulation of chondrogenesis and osteogenesis in zebrafish is mediated through formation and survival of a sub-population of the cranial neural crest. Mechanisms of Development 127:329-344 (2010).

89. Wang W, Yap CHA, Loh SF, Tan ASC, Lim MN, Prasath EB, Chan MLH, Tan WC, Jiang B, Yeo GH, Mathew J, Ho A, Ho SSY, Wong PC, Choolani MA, Chong SS. Simplified PGD of common determinants of hemoglobin Bart’s hydrops fetalis syndrome using a multiplex-microsatellite PCR assay. Reproductive BioMedicine Online 21:624-628 (2010).

90. Wang J, Ronaghi M, Chong SS, Lee CG. pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses. Human Mutation 32:19-24 (2011).

91. Wolf SJ, Bachtiar M, Wang J, Sim TS, Chong SS, Lee CGL. An update on ABCB1 pharmacogenetics - Insights from a 3D model into the location and evolutionary conservation of residues corresponding to SNPs associated with drug pharmacokinetics. The Pharmacogenomics Journal (2011) in press.

92. Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Murray T, Redett RJ, Fallin MD, Liang KY, Wu T, Patel PJ, Jin SC, Zhang TX, Schwender H, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Lie RT, Jee SH, Christensen K, Doheny KF, Pugh EW, Ling H, Scott AF. Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate. Genetic Epidemiology (2011) in press.

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Manuscripts in Review/Revision93. Teo CRL, Law HY, Lee CG, Chong SS. Single-tube methylation-specific AGG-interruption assay for rapid

identification of normal, gray zone, premutation and full mutation FMR1 alleles in males and females.94. Loh SF, Wong PC, Jiang B, Yeo GH, Tan ASC, Prasath EB, Mathew J, Chan MLH, Tan WC, Choolani MA, Yap

CHA, Chong SS. Preimplantation genetic diagnosis of chromosome translocations by analysis of polymorphic short tandem repeats.

CONFERENCE ABSTRACTS1. Chong SSC, Khoo HW. The abbreviated larval development of the freshwater prawn, Macrobrachium

geron Holthuis, 1950 (Decapoda, Palaemonidae), reared in the laboratory. Bulletin of the Faculty of Science, National University of Singapore 5:21 (1985).

2. Chong SSC, Khoo HW, Murphy DH. The larval development of some Malayan freshwater prawns of the genus Macrobrachium (Decapoda: Palaemonidae) and the role of larval characters in the taxonomy of the genus. Bulletin of the Faculty of Science, National University of Singapore 6:25 (1986).

3. Chong SSC, Murphy DH, Khoo HW. Systematics of some Malayan freshwater prawns of the genus Macrobrachium (Decapoda: Palaemonidae). Bulletin of the Faculty of Science, National University of Singapore 6:25 (1986).

4. Vielkind JR, Stuart GW, Chong SSC. Transient and stable expression of a CAT transgene in medaka (Oryzias latipes) and zebrafish (Brachydanio rerio). Workshop, New Trends in Ichthyology, 7-10 March 1988, Munchen-Neuherberg, West Germany.

5. Chong SSC, Vielkind JR. Expression of CAT reporter gene microinjected into 2-cell stage medaka (Oryzias

latipes) embryos. 21st Annual Northwest Regional Developmental Biology Conference, 12-14 May 1988, Friday Harbor, WA, USA.

6. Vielkind JR, Chong SS, Schmidt BM, Winkler C, Friedenreich H, Schartl M. Transgenic Fish (Medaka, Oryzias latipes): Expression and fate of recombinant reporter transgenes. University of Texas MD Anderson Cancer Center 41st Annual Symposium on Fundamental Cancer Research, 11-14 October 1988, Houston, TX, USA.

7. Chong SSC, Stuart GW, Vielkind JR. Expression of CAT reporter gene microinjected into 2-cell stage medaka and zebrafish embryos. Genome, 30 Suppl.1:449 (1988). 16th International Congress of Genetics, 20-27 August 1988, Toronto, Canada.

8. Chong SS, Cota J, Hardikar S, Hughes MR. Preimplantation diagnosis of X-linked disease: Reliable sex determination of single human cells by rapid analysis of simultaneously amplified ZFX and ZFY RFLPs. American Journal of Human Genetics 51(4) Suppl.:A211 (1992). 42nd American Society of Human Genetics Meeting, 9-13 November 1992, San Francisco, CA, USA.

9. Chong SS, Hughes MR. Preimplantation prevention of X-linked disease: Reliable and rapid sexing of single human blastomeres by restriction analysis of simultaneously amplified ZFX and ZFY sequences. 5th

Annual Graduate Student Research Symposium, The Graduate School of Biomedical Sciences, Baylor College of Medicine, 2 April 1993, Houston, TX, USA. Winner, First Place Poster Award .

10. Kristjansson K, Chong SS, Bourdeau JE, Hughes MR. Cloning and characterization of the human and mouse cDNA homologs of a sodium dependent phosphate transporter. Arthritis Foundation Research Conference, 18-20 June 1993, Phoenix, AZ, USA, pp. 85.

11. Chong SS, Kristjansson K, Van den Veyver IB, Snabes MC, Hughes MR. Genetic analysis of multiple loci from a single cell using whole genome amplification. AAAS Science Innovation - New Techniques and Instruments in Biomedical Research, 6-10 August 1993, Boston, MA, USA, pp. 128. Oral Presentation

12. Chong SS, Snabes MC, Kristjansson K, Subramanian S, Van den Veyver IB, Hughes MR. Diagnosis and prevention of X-linked diseases in the preimplantation period by multi-locus/multi-exon PCR after single cell whole genome amplification. BioInternational '93, 24-26 August 1993, Houston, TX, USA.

13. Chong SS, Kristjansson K, Van den Veyver IB, Snabes MC, Hughes MR. Preimplantation analysis for dystrophin gene deletions after single cell genome preamplification. American Journal of Human Genetics 53(3) Suppl.:1392 (1993). 43rd American Society of Human Genetics Meeting, 5-9 October 1993, New Orleans, LA, USA. Winner, Predoctoral Clinical Research Award.

14. Van den Veyver IB, Chong SS, Moise KJ, Hughes MR. A preimplantation diagnostic approach for the prevention of neonatal alloimmune thrombocytopenic purpura. American Journal of Human Genetics 53(3) Suppl.:1468 (1993). 43rd American Society of Human Genetics Meeting, 5-9 October 1993, New Orleans, LA, USA.

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15. Snabes MC, Subramanian S, Kristjansson K, Chong SS, Cota J, Hughes MR. Whole genome amplification in preimplantation genetic diagnosis. American Journal of Human Genetics 53(3) Suppl.:90 (1993). 43rd

American Society of Human Genetics Meeting, 5-9 October 1993, New Orleans, LA, USA.16. Chong SS, Hughes MR. Preimplantation diagnosis and prevention of human genetic diseases using single

cell whole genome amplification. 6th Annual Graduate Student Research Symposium, The Graduate School of Biomedical Sciences, Baylor College of Medicine, 15 April 1994, Houston, TX, USA.

17. Chong SS, Snabes MC, Hughes MR. Single cell genome analysis in preimplantation genetic diagnosis and in tracking triplet repeat instability. 35th National Student Research Forum, 28-30 April 1994, Galveston, TX, USA, pp. 62. Oral Presentation Winner, University of Texas Medical Branch Department of Human Biological Chemistry and Genetics’ Biochemistry / Molecular Biology Award. Winner, March of Dimes Birth Defects Foundation Award for Research Excellence in the Area of Genetics and Birth Defects

18. Eichler EE, Chong SS, Hughes MR, Nelson DL. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. 4th International Fragile X Conference, 8-12 June 1994, Albuquerque, NM, USA.

19. Van den Veyver IB, Chong SS, Cota J, Bennett PR, Fisk NM, Handyside AH, Cartron JP, Van Kim CL, Colin Y, Snabes MC, Moise KJ Jr, Hughes MR. Single cell analysis of the rhesus (D) blood type for use in preimplantation diagnosis in the prevention of severe hemolytic disease of the newborn. American Journal of Human Genetics 55(3) Suppl.:A45 (1994). 44th American Society of Human Genetics Meeting, 18-22 October 1994, Montreal, Canada.

20. Chong SS, McCall AE, Subramony S, Cota J, Orr HT, Hughes MR, Zoghbi HY. Single cell analysis reveals gametic and tissue-specific instability of the SCA1 CAG repeat. American Journal of Human Genetics 55(3) Suppl.:A217 (1994). 44th American Society of Human Genetics Meeting, 18-22 October 1994, Montreal, Canada. Finalist, Postdoctoral Clinical Research Award.

21. Chong SS, McCall AE, Subramony S, Cota J, Orr HT, Zoghbi HY, Hughes MR. Midstream CAT punctuations within the SCA1 CAG repeat: implications for prenatal and preimplantation diagnosis. 2nd Joint Clinical Genetics Meeting (26th Annual March of Dimes Clinical Genetics Conference and American College of Medical Genetics 2nd Annual Meeting), 6-9 March 1995, Los Angeles, CA, USA, pp. 155.

22. Chong SS, Pack S, Tanigami A, Carrozzo R, Dobyns WB, Ledbetter DH. Miller-Dieker syndrome: delineation of the lissencephaly gene locus on chromosome 17p13.3. Gordon Research Conference - Human Molecular Genetics, 30 Jul-4 August 1995, Newport, RI, USA.

23. Hirotsune S, Pack S, Chong SS, Kimber W, Ledbetter DH, Wynshaw-Boris A. Creation of a model for Miller-Dieker syndrome (MDS) in the mouse. 2nd Annual Scientific Retreat, Division of Intramural Research, National Center for Human Genome Research, NIH, 12-13 September 1995, Airlie, VA, USA.

24. Chong SS, Haddad BR, Bourdelat-Parks B, Cota J, Hughes MR. Single cell detection of triplet repeat loci for preimplantation diagnosis and instability analysis of “dynamic mutation” disorders. 2nd Annual Scientific Retreat, Division of Intramural Research, National Center for Human Genome Research, NIH, 12-13 September 1995, Airlie, VA, USA.

25. Pack SD, Tanigami A, Chong SS, Roschke AV, Dobyns WB, Smith ACM, Ledbetter DH. Cytogenetic analysis of the lissencephaly-Miller-Dieker critical region on human chromosome 17p13.3. 2nd Annual Scientific Retreat, Division of Intramural Research, National Center for Human Genome Research, NIH, 12-13 September 1995, Airlie, VA, USA.

26. Chong SS, Pack S, Tanigami A, Carrozzo R, Dobyns WB, Ledbetter DH. Miller-Dieker syndrome: delineation of the lissencephaly gene locus on chromosome 17p13.3. 2nd Annual Scientific Retreat, Division of Intramural Research, National Center for Human Genome Research, NIH, 12-13 September 1995, Airlie, VA, USA.

27. Chong SS, Haddad BR, Cota J, Hughes MR. Successful detection of the FMR1, HD, and SCA1 triplet repeats from single cells: implications for preimplantation diagnosis and instability analysis of fragile X syndrome, Huntington disease, and spino-cerebellar ataxia type 1. NIH Research Festival, 18-22 September 1995, Bethesda, MD, USA.

28. Chong SS, Pack S, Tanigami A, Carrozzo R, Dobyns WB, Ledbetter DH. Definition Of A Minimal Critical Region For The Isolated Lissencephaly Sequence Gene On Chromosome 17p13.3 By Systematic Deletion Analysis Of MDS And ILS Patients. Workshop on Identification of Human Disease Genes: 1995, NIH Research Festival, 18 – 22 September 1995, Bethesda, MD, USA, pp. 12. Invited Oral Presentation

29. Haddad BR, Chong SS, Subramanian S, Cota J, Hughes MR. Genetic typing of single cells using multiple tetrameric tandem repeats after whole genome amplification. American Journal of Human Genetics 57(4)

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Suppl.:A32 (1995). 45th American Society of Human Genetics Meeting, 24-28 October 1995, Minneapolis, MN, USA.

30. Chong SS, Pack S, Tanigami A, Carrozzo R, Dobyns WB, Ledbetter DH. Systematic deletion analysis of MDS and ILS patients excludes a candidate gene and delineates the lissencephaly gene locus. American Journal of Human Genetics 57(4) Suppl.:A34 (1995). 45th American Society of Human Genetics Meeting, 24-28 October 1995, Minneapolis, MN, USA. Oral Presentation

31. Hughes MR, Haddad BR, Subramanian S, Nasonkin I, Cota J, Chong SS. Single cell detection of the FMR1, HD, and SCA1 trinucleotide repeats: application to preimplantation diagnosis and instability analysis of fragile X syndrome, Huntington disease, and spino-cerebellar ataxia type 1. American Journal of Human Genetics 57(4) Suppl.:A31 (1995). 45th American Society of Human Genetics Meeting, 24-28 October 1995, Minneapolis, MN, USA.

32. Tanigami A, Roschke A, Ning Y, Huang B, Chong SS, Carrozzo R, Chandrasekharappa S, Chinault AC, Nakamura Y, Ledbetter DH. Physical mapping of 100 STSs and 31 YACs and isolation of three new simple-sequence repeat polymorphic markers in chromosome band 17p13. American Journal of Human Genetics 57(4) Suppl.:A271 (1995). 45th American Society of Human Genetics Meeting, 24-28 October 1995, Minneapolis, MN, USA.

33. Chong SS, Bourdelat-Parks B, Liu L, Haddad BR, Gore-Langton RG, Hughes MR. Single cell analyses of trinucleotide repeats for preimplantation diagnosis of "dynamic mutation" disorders. Gordon Research Conference - Mammalian Gametogenesis and Embryogenesis, 11-16 August 1996, New London, NH, USA.

34. Lo Nigro C, Chong SS, Dobyns W, Ferrari M, Carrozzo R, Ledbetter DH. Mutations in the LIS1 gene in patients with type I lissencephaly. XI th National Congress of the Italian Federation for the Study of Inherited Diseases, 9-12 October 1996, Spoleto, Italy, pp. 119.

35. Almqvist E, Chong SS, Telenius H, La Tray L, Nichols K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg C, Ives E, Van den Engh G, Hughes MR, Hayden MR. Contribution of DNA sequence and (CAG)n size to mutational frequencies of intermediate alleles (IAs) for Huntington disease (HD): evidence from single sperm analyses. American Journal of Human Genetics 59(4) Suppl.: A48 (1996). 46th American Society of Human Genetics Meeting, 29 October to 2 November 1996, San Francisco, CA, USA.

36. Chong SS, Lo Nigro C, Roschke AV, Tanigami A, Pack SD, Smith ACM, Carrozzo R, Dobyns WB, Ledbetter DH. Point mutations and an intragenic deletion in three ILS patients confirm LIS1 as the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. American Journal of Human Genetics 59(4) Suppl.: A23 (1996). 46th American Society of Human Genetics Meeting, 29 October to 2 November 1996, San Francisco, CA, USA. Oral Presentation

37. Hirotsune S, Chong SS, Pack SD, Ledbetter DH, Wynshaw-Boris A. Creation of a mouse model for Miller-Dieker syndrome (MDS) by Cre-loxP recombination-mediated microdeletions. American Journal of Human Genetics 59(4) Suppl.: A120 (1996). 46th American Society of Human Genetics Meeting, 29 October to 2 November 1996, San Francisco, CA, USA.

38. Chong SS, Almqvist E, Telenius H, La Tray L, Nichols K, Bourdelat-Parks B, Goldberg YP, Haddad B, Richards F, Sillence D, Greenberg C, Ives E, Van den Engh G, Hughes MR, Hayden MR. Single sperm mutational analysis of Huntington disease intermediate and expanded alleles. 4 th Joint Clinical Genetics Meeting (28th Annual March of Dimes Clinical Genetics Conference and American College of Medical Genetics 4th Annual Meeting), 28 February to 2 March 1997, Ft. Lauderdale, FL, USA, pp. A6. Oral Presentation

39. Chong SS, Hughes MR. Single cell analysis of triplet repeat expansion mutations including Huntington disease and myotonic dystrophy. Journal of Assisted Reproduction and Genetics 14(5) Suppl.: 32S (1997). 10th World Congress on In Vitro Fertilization and Assisted Reproduction, 24-28 May 1997, Vancouver, CANADA. Invited Oral Presentation

40. Almqvist E, Chong SS, Nichol K, Telenius H, La Tray L, Bourdelat-Parks B, Haddad BR, Squitieri F, Anvret M, Van den Engh G, Hughes MR, Hayden MR. Single sperm analysis of chromosomes with an expanded CAG repeat in the Huntington disease gene. 28 th International Meeting of the World Federation of Neurology Research Group on Huntington’s Disease, 30 August to 2 September 1997, Sydney, Australia.

41. Meck J, Chong SS, Motz M, Kozma C. A novel interstitial deletion of distal 4p15 and proximal 4p16 associated with mild phenotypic findings. American Journal of Human Genetics 61(4) Suppl.: A134 (1997). 47th American Society of Human Genetics Meeting, 28 October to 1 November 1997, Baltimore, MD, USA.

42. Almqvist E, Chong SS, Nichol K, Telenius H, La Tray L, Bourdelat-Parks B, Haddad BR, Squitieri F, Anvret M, Van den Engh G, Hughes MR, Hayden MR. Different mutation rates of similar sized CAG tracts of

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affected Huntington disease chromosomes by single sperm analysis. American Journal of Human Genetics 61(4) Suppl.: A303 (1997). 47th American Society of Human Genetics Meeting, 28 October to 1 November 1997, Baltimore, MD, USA.

43. Chong SS, Sanders PG, Tyson HJ, Boehm CD. Multiplex PCR screen for common South-East Asian and African -thalassemia gene deletions. American Journal of Human Genetics 63(4) Suppl.: A228 (1998). 48th American Society of Human Genetics Meeting, 27-31 October 1998, Denver, CO, USA.

44. Chapman C, Boehm CD, Sanders P, Moser HW, Cutting GR, Chong SS. Strategy for accurate carrier detection in X-linked adrenoleukodystrophy. American Journal of Human Genetics 63(4) Suppl.: A227 (1998). 48th American Society of Human Genetics Meeting, 27-31 October 1998, Denver, CO, USA.

45. Boehm CD, Tyson HJ, Chapman C, Sanders PG, Chong SS. Highly sensitive and specific DNA sequencing suitable for the clinical laboratory. American Journal of Human Genetics 63(4) Suppl.: A226 (1998). 48th

American Society of Human Genetics Meeting, 27-31 October 1998, Denver, CO, USA.46. Chong SS, Boehm CD, Cutting GR, Higgs DR. Sequence characterization of the -- THAI allele of -

thalassemia and rapid detection using a single-tube multiplex-PCR assay. Genetics in Medicine 2(1):103 (2000). American College of Medical Genetics Annual Clinical Genetics Meeting (in cooperation with the 31st Annual March of Dimes Clinical Genetics Conference), 9-12 March 2000, Palm Springs, CA, USA.

47. Chiu L, Chua SP, Tay S, Ong HT, Low PS, Chong SS, Koay E. Cytogenetic and molecular genetic analyses of fragile X syndrome. 4th National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting, 30 June – 1 July 2000, Singapore, pp. 79.

48. Yeoh EJ, Wee-Kham KY, Loong AM, Tan PL, Agus F, Chong SS, Quah TC. A population survey of and thalassemia mutations in Singapore. 4th National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting, 30 June – 1 July 2000, Singapore, pp. 101.

49. Tan ASC, Chong SS. Single cell analysis of --SEA determinant of -thalassemia for preimplantation genetic diagnosis of Hb Bart’s hydrops fetalis syndrome. 4 th National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting, 30 June – 1 July 2000, Singapore, pp. 99. Winner, Best Clinical Science Poster Award

50. Tan ASC, Chong SS. Single cell analysis of --SEA determinant of -thalassemia for preimplantation genetic diagnosis and avoidance of Hb Bart’s hydrops fetalis syndrome. 2nd Combined Annual Scientific Meeting: New Therapies and Challenges in Biomedical Sciences, 8-9 September 2000, Singapore, pp. P73.

51. Chong SS, Tan ASC. Single cell analysis of --SEA determinant of -thalassemia for preimplantation genetic diagnosis and avoidance of Hb Bart’s hydrops fetalis syndrome. American Journal of Human Genetics 67(4) Suppl. 2: 421 (2000). 50th American Society of Human Genetics Meeting, 3-7 October 2000, Philadelphia, PA, USA.

52. Tan ASC, Chong SS. Multiplex-Gap-PCR analysis of common -thalassemia deletions. International Conference on Fundamental Sciences: Biological & Chemical Sciences, 21-24 May 2001, Singapore, pp. 146.

53. Gong WK, Cheung W, Liew YC, Heng CK, Chong SS, Yap HK. Association studies of interleukin (IL)-13 gene single nucleotide polymorphisms (SNPs) in childhood minimal change nephrotic syndrome (MCNS). 5 th

National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting: Academia as the Foundation for the Biomedical Sciences, 29-30 June 2001, Singapore, pp. 66. Finalist, Best Clinical Science Poster Award

54. Tan ASC, Chong SS. Simplified multiplex gap-PCR diagnostic testing for -thalassemia. 5th National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting: Academia as the Foundation for the Biomedical Sciences, 29-30 June 2001, Singapore, pp. 70. Finalist, Best Clinical Science Poster Award

55. Tan ASC, Wang W, Zhou YY, Kham SKY, Chiu L, Wong SC, Lee SH, Koay ESC, Quah TC, Low PS, Chong SS. Molecular diagnostics in genetic medicine: novel strategies for genetic testing of common inherited disorders. BioMedical Asia 2001 Conference, 19-21 September 2001, Singapore, pp. A18.

56. Shek LPC, Loh HYA, Chong SS, Lee BW. Association of atopy with a polymorphism in the IL-12 gene in Singapore Chinese. BioMedical Asia 2001 Conference, 19-21 September 2001, Singapore, pp. A16.

57. Liang D, Tian J, Zeng S, Cheah FSH, Ben J, Ng GBH, Hue SSS, Lim CY, Lee CGL, Jabs EW, Chong SS. Delineating molecular pathways of human development and disease in the zebrafish vertebrate model: craniofacial malformations as a paradigm. BioMedical Asia 2001 Conference, 19-21 September 2001, Singapore, pp. A3.

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58. Gong WK, Cheung W, Liew YC, Heng CK, Chong SS, Yap HK. Single nucleotide polymorphisms (SNPs) of the Interleukin-13 (IL-13) gene in Singaporean Chinese. BioMedical Asia 2001 Conference, 19-21 September 2001, Singapore, pp. A6.

59. Cheung W, Liew YC, Heng CK, Chong SS, Gong WK, Yap HK. Single nucleotide polymorphisms (SNPs) of interleukin-13 gene: lack of association with childhood minimal change nephrotic syndrome. Journal of the American Society of Nephrology 12: 628A (2001). ASN/ISN World Congress of Nephrology, 10-17 October 2001, San Francisco, CA, USA.

60. Zhou YY, Chong SS. Simplified molecular diagnostic testing for fragile X syndrome using methylation-specific PCR (ms-PCR) analysis. American Journal of Human Genetics 69(4) Suppl.: 438 (2001). 51st

American Society of Human Genetics Meeting, 12-16 October 2001, San Diego, CA, USA.61. Wang W, Chong SS. Detection of common - and -thalassemia by multiplex PCR and minisequencing.

3rd Combined Annual Scientific Meeting: Life Sciences for Singapore, 12-13 November 2001, Singapore, pp. 130.

62. Tang K, Ngoi SM, Chua J, Gwee PC, Kao SL, Chong SS, Lee CGL. Polymorphisms in the MDR1 multidrug transporter in the Asian population. 3rd Combined Annual Scientific Meeting: Life Sciences for Singapore, 12-13 November 2001, Singapore, pp. 72.

63. Zhou YY, Chong SS. A methylation-specific PCR (ms-PCR) approach for simplified detection of fragile X syndrome. 3rd Combined Annual Scientific Meeting: Life Sciences for Singapore, 12-13 November 2001, Singapore, pp. 131. Finalist, Best Therapeutics & Diagnostics Poster Award

64. Cheah FSH, Liang D, Tan SS, Jabs EW, Chong SS. Zebrafish twist1 and fgfr3 morphants exhibit malformation of the head skeleton, pharyngeal arches, and pectoral fins. 5 th International Meeting on Zebrafish Development and Genetics, 12-16 June 2002, Madison, WI, USA, pp. 152.

65. Wang W, Kham SKY, Quah TC, Chong SS. Multiplex PCR and minisequencing assays of the HBB and HBA2 genes for thalassemia molecular diagnosis. 6th National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting: From Laboratory to Clinic, 16-17 August 2002, Singapore, pp. 137. Finalist, Best Clinical Science Poster Award

66. Lee CGL, Gwee PC, Tang K, Chua J, Chong SS. A single-tube multiplex minisequencing assay for simultaneous genotyping of 6 single nucleotide polymorphisms (SNPs) of the MDR1 gene. American Journal of Human Genetics 71(4) Suppl.: 407 (2002). 52nd American Society of Human Genetics Meeting, 15-19 October 2002, Baltimore, MD, USA.

67. Cheah FSH, Jabs EW, Chong SS. Expression and functional analyses of zebrafish tgf3. American Journal of Human Genetics 71(4) Suppl.: 315 (2002). 52nd American Society of Human Genetics Meeting, 15-19 October 2002, Baltimore, MD, USA.

68. Chong SS, Wang W. A robust multiplex minisequencing assay for rapid screening of common HBB and HBA2 thalassemia mutations. American Journal of Human Genetics 71(4) Suppl.: 541 (2002). 52nd

American Society of Human Genetics Meeting, 15-19 October 2002, Baltimore, MD, USA.69. Wei CL, Cheung W, Loh HY, Chong SS, Lee BW, Yap HK. Genetic polymorphism in the 3’ untranslated

region of IL12B in Singapore Chinese: Lack of association with minimal change nephrotic syndrome. Journal of the American Society of Nephrology SU-P0238 (2002). American Society of Nephrology 35th

Annual Meeting and Scientific Exposition, 30 October – 4 November, 2002, Philadelphia, PA, USA.70. Gwee PC, Tang K, Lee EJD, Chong SS, Lee CGL. Haplotype profile at the ABCC5 gene locus in the ethnic

Chinese population. 4th Combined Scientific Meeting: Life Sciences in Singapore, Integrating Multidimensional Perspectives, 15-18 January 2003, Singapore, pp. 82.

71. Ng MJ, Chang SBC, Cheah FSH, Ben J, Lee CGL, Phang CH, Chong SS. Molecular cloning, sequencing, and in vivo expression testing of putative 5’ regulatory segments of the muscle-specific myogenin and tropomodulin4 genes in the zebrafish (Danio rerio). 4th Combined Scientific Meeting: Life Sciences in Singapore, Integrating Multidimensional Perspectives, 15-18 January 2003, Singapore, pp. 87.

72. Wei CL, Cheung W, Heng CK, Chong SS, Yap HK. Interleukin-13 genetic polymorphisms in Singapore Chinese children correlate with long-term outcome of minimal change nephritic syndrome. 4 th Combined Scientific Meeting: Life Sciences in Singapore, Integrating Multidimensional Perspectives, 15-18 January 2003, Singapore, pp. 41.

73. Cheah FSH, Jabs EW, Chong SS. The zebrafish Danio rerio as an animal model for craniofacial development and disease – genomic and functional studies of tgfβ3. 4th Combined Scientific Meeting: Life Sciences in Singapore, Integrating Multidimensional Perspectives, 15-18 January 2003, Singapore, pp. 42. Winner, Poster Merit Award

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74. Zhou Y, Law HY, Boehm CD, Yoon CS, Cutting GR, Ng ISL, Chong SS. A comprehensive PCR-based diagnostic assay for rapid detection of the full spectrum of Fragile X mental retardation syndrome expansion mutations. 4th Combined Scientific Meeting: Life Sciences in Singapore, Integrating Multidimensional Perspectives, 15-18 January 2003, Singapore, pp. 58. Finalist, Poster Award

75. Wang W, Ma ESK, Chan AYY, Chui DHK, Chong SS. Rapid detection of -globin gene triplications (anti3.7 and anti4.2) by single-tube multiplex-PCR analysis. 4th Combined Scientific Meeting: Life Sciences in Singapore, Integrating Multidimensional Perspectives, 15-18 January 2003, Singapore, pp. 56. Finalist, Poster Award

76. Tan WC, Mohamed N-E, Ng MJ, Chang SBC, Ben J, Cheah FSH, Lee CGL, Chong SS, Phang CH. In Vivo Expression Testing of the Apolipoprotein E and Rhodopsin Gene Promoter-EGFP Constructs in Zebrafish Embryos – Towards Generation of Transgenic Fish Displaying Tissue-Specific Fluorescent Color. 4th

Combined Scientific Meeting: Life Sciences in Singapore, Integrating Multidimensional Perspectives, 15-18 January 2003, Singapore, pp. 96.

77. Tan ASC, Yap CHA, Lim MN, Yong YY, Chong SS. Validation of a single cell polymerase chain reaction (PCR) assay for application to preimplantation genetic diagnosis (PGD) of hemoglobin (Hb) Bart’s hydrops fetalis syndrome. Singapore Journal of Obstetrics & Gynaecology 34 Suppl.: 72-73 (2003). 4th Singapore Congress in O&G and 1st Singapore-Malaysia Conference in O&G, 16-19 January 2003, Singapore. Winner, 2 nd Prize Poster Award

78. Cheah FSH, Yeo GH, Liang D, Jabs EW, Chong SS. Molecular dissection of the Saethre-Chotzen syndrome gene TWIST in the zebrafish model. 7th National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting, 2-3 October 2003, Singapore, pp. 52. Finalist, Best Basic Science Poster Award

79. Wang B, Ren, J, Tang K, Ooi, LPJ, Chong SS, Lee CGL. d(CA) dinucleotide repeats negatively modulate promoter activity of Cyr61 and is highly unstable in HCC patients. 7 th National University Hospital - National University of Singapore Faculty of Medicine Annual Scientific Meeting: New Frontiers in Medicine, 2-3 October 2003, Singapore, pp. 47. Finalist, Young Scientist Award (Poster)

80. Wang W, Ma ESK, Chan AYY, Chan LC, Chui DHK, Chong SS. Simplified single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 -globin gene triplications. Annals Academy of Medicine Singapore 32(5) Suppl.: S135 (2003). NHG Annual Scientific Congress 2003, 4-5 October 2003, Singapore.

81. Chong SS, Kham SKY, Quah TC, Wang W. Improved molecular diagnostic assays for common nondeletional Southeast Asian - and -thalassemia mutations. Annals Academy of Medicine Singapore 32(5) Suppl.: S79 (2003). NHG Annual Scientific Congress 2003, 4-5 October 2003, Singapore.

82. Chong SS, Zhou Y, Law HY, Ng ISL. Highly specific and sensitive molecular diagnosis of Fragile X syndrome using a triple methylation-specific PCR strategy. Annals Academy of Medicine Singapore 32(5) Suppl.: S97-S98 (2003). NHG Annual Scientific Congress 2003, 4-5 October 2003, Singapore.

83. Tan ASC, Yap CHA, Lim MN, Yong YY, Chong SS. Single cell assays for preimplantation genetic diagnosis of Southeast Asian - and -thalassemia. 9th International Conference on Thalassaemia and the Haemoglobinopathies & 11th International TIF Conference for Parents and Thalassaemics, 15-19 October 2003, Città del Mare (Palermo), Italy, pp. O19 (Oral Presentation).

84. Wang W, Tan ASC, Kham SKY, Chan AYY, Prior J, Erber WN, Ma ESK, Chan LC, Chui DHK, Quah TC, Chong SS. Improved tools for molecular diagnosis of - and -thalassemia in Southeast Asia. 9th International Conference on Thalassaemia and the Haemoglobinopathies & 11th International TIF Conference for Parents and Thalassaemics, 15-19 October 2003, Città del Mare (Palermo), Italy, pp. P051.

85. Tyson H, Chong SS, Benner A, Al Hasnan Z, Katsanis S, Thrift K, Lawler A, Stetten G, Zhao Y, Cutting GR. Validation of preimplantation genetic diagnosis for clinical applications. American Journal of Human Genetics 73(5) Suppl.: 598 (2003). 53rd American Society of Human Genetics Meeting, 4-8 November 2003, Los Angeles, CA, USA.

86. Ngoi S-M, Sew PH, Gwee PC, Tang K, Gwee PC, Lee EJD, Chong SS, Lee CGL. Single nucleotide polymorphism and haplotype structures in ABCG2 gene in three ethnic Asian populations. 6th Joint Conference of the American Association for Cancer Research and the Japanese Cancer Association, 25-29 January 2004, Hilton Waikoloa Village, Waikoloa, HI, USA, pp. A48.

87. Tang K, Wong LP, Lee EJD, Chong SS, Lee CGL. Recent positive selection of SNPs e21/2677 and e26/3435 in the MDR1 gene. AACR 95th Annual Meeting, 27-31 March, 2004, Orlando, Florida, USA, pp. 2923. (Kun Tang won the 2004 AACR-ITO EN Ltd Scholar-in-Training Award to attend this meeting)

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88. Ng SL, Xei F, Tang GI, Lim GB, Kueh J, Wang W, Chong SS. Molecular detection of deletional and non-deletional alpha-thalassemia mutations using real-time PCR. 5 th Combined Scientific Meeting: Life Sciences in Singapore, Health and Disease. 12-14 May 2004, Singapore, pp. P63.

89. Ben J, Chong SS. Molecular characterization and embryonic expression analysis of the interferon regulatory factor 6 (IRF6) gene in the zebrafish Danio rerio. 5th Combined Scientific Meeting: Life Sciences in Singapore, Health and Disease. 12-14 May 2004, Singapore, pp. P3.

90. Rashid A, Luo JJ, Cheah FSH, Ben J, Phang C-H, Chong SS. Evaluation of a transposon-based gene transfer system for realtime analysis of zebrafish gene expression. 5 th Combined Scientific Meeting: Life Sciences in Singapore, Health and Disease. 12-14 May 2004, Singapore, pp. P21.

91. Ben J, Jabs EW, Chong SS. Molecular developmental expression analysis of the zebrafish ortholog of the Van der Woude syndrome gene IRF6. 6th International Meeting on Zebrafish Development and Genetics, 29 July - 2 August 2004, Madison, WI, USA, pp. 233.

92. Rashid A, Ng MJ, Ben J, Cheah FSH, Koga A, Jabs EW, Lee CGL, Phang C-H, Chong SS. Zebrafish transgenesis using a Tol2 transposon gene transfer system. 6th International Meeting on Zebrafish Development and Genetics, 29 July - 2 August 2004, Madison, WI, USA, pp. 623.

93. Ben J, Jabs EW, Chong SS. The zebrafish ortholog of the Van der Woude syndrome gene IRF6 – cDNA, genomic, and embryonic expression analysis. Santa Cruz Conference on Developmental Biology, 5-9 August 2004, Santa Cruz, CA, USA, pp. 47.

94. Ho SSY, Chua WR, Loganath A, Heng CK, Choolani MA, Chong SS, Chong YS. Lack of association of the missense Glu298Asp variant of the endothelial nitric oxide synthase gene with preeclampsia in a Malay population. Annals Academy of Medicine Singapore 33(5) Suppl.: S132-S133 (2004). National Healthcare Group (NHG) Annual Scientific Congress 2004: Merging Medicine with Science – Translation, Prevention, Cure, 9-11 October 2004, Singapore.

95. Ben J, Jabs EW, Chong SS. Genomic, cDNA, and embryonic expression analysis of the zebrafish ortholog of IRF6, the causative gene in Van der Woude and popliteal pterygium syndromes. 54 th American Society of Human Genetics Meeting, 26-30 October 2004, Toronto, Canada. Abstracts handbook pp. 205.

96. Wang ZH, Tang K, Lee EJ, Chong SS, Lee CG. Allele at the MRP1 gene locus shows evidence of positive selection in the Caucasian population. 54th American Society of Human Genetics Meeting, 26-30 October 2004, Toronto, Canada. Abstracts handbook pp. 230.

97. Rashid A, Ng MJ, Ben J, Cheah FSH, Koga A, Jabs EW, Lee CGL, Phang CH, Chong SS. Efficient transgenesis and sustained muscle-specific expression of a myogenin-EGFP Tol2 transposon construct in zebrafish. 54th

American Society of Human Genetics Meeting, 26-30 October 2004, Toronto, Canada. Abstracts handbook pp. 249.

98. Wang W, Chan AYY, Ma ESK, Chong SS. A novel allele of the -globin gene cluster containing both the -3.7 and anti4.2 crossover junctions – implications for thalassemia genotyping. 54th American Society of Human Genetics Meeting, 26-30 October 2004, Toronto, Canada. Abstracts handbook pp. 461.

99. Lee ATC, Ren J, Kan A, Wong LP, Leong SH, Ooi LL, Jeang KT, Chong SS, Kon OL, Lee CGL. Chromosomal instability in FAT10 expressing cells. AACR Special Conference in Cancer Research: Cell Cycle and Cancer: Pathways and Therapies, 2004, Florida, USA. Abstract No: A39.

100. Chong SS, Ngoi SM, Ng JY, Wong LP, Sew PH, Gwee PC, Tang K, Lee EJ, Lee CG. Haplotypes at the ABCG2 gene locus associated with altered protein expression occur at different frequencies in different populations. American Association for Cancer Research 96th Annual Meeting, 16-20 April 2005, Anaheim, CA, USA. Proceedings of the American Association for Cancer Research 2005;46:4151.

101. Ngiam NS, Chong SS, Shek LP, Goh DY. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations/polymorphisms in Asian patients with chronic pulmonary disease (Abstract). 39th Singapore-Malaysia Congress of Medicine, 30 June - 3 July 2005, Singapore, pp. 33.

102. Wang W, Chan AYY, Chan LC, Ma ESK, Chong SS. An unusual allele of the alpha-globin gene cluster containing both the -alpha 3.7 and anti4.2 crossover junctions – implications for PCR-based thalassemia molecular diagnosis. 10th International Congress of Pediatric Laboratory Medicine, East Meets West – Meeting the Challenges in Pediatric Diagnosis and Management, 3 – 6 September 2005, SINGAPORE. Abstracts handbook pp. 47.

103. Law HY, Luo HY, Wang W, Ng ISL, Steinberg MH, Chui DHK, Chong SS. Recombinant “patchwork” alpha-globin genes: evidence for recurrent gene conversion and/or crossing over fixation events. 10th

International Congress of Pediatric Laboratory Medicine, East Meets West – Meeting the Challenges in Pediatric Diagnosis and Management, 3 – 6 September 2005, SINGAPORE. Abstracts handbook pp. 51.

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104. Quek DL, Ng YY, Tang GI, Wang W, Law HY, Ng ISL, Chong SS. Single-step screen for six common Southeast Asian beta-thalassemia mutations by real-time allele-specific PCR and dissociation curve analysis. 10th International Congress of Pediatric Laboratory Medicine, East Meets West – Meeting the Challenges in Pediatric Diagnosis and Management, 3 – 6 September 2005, SINGAPORE. Abstracts handbook pp. 52.

105. Lim MN, Tan ASC, Tan WC, Yu SL, Chong SS, Yap CHA. Preimplantation genetic diagnosis for - & -thalassemia by single cell polymerase chain reaction. Annals Academy of Medicine, Singapore 34(9) Suppl.: S205 (2005). Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005, Singapore.

106. Ren JW, Kan A, Leong SH, Ooi LLPJ, Chong SS, Kon OL, Lee CGL. Over-expression of the FAT10 gene is associated with increased chromosomal instability through relocalization of MAD2, the mitotic checkpoint protein. Annals Academy of Medicine Singapore 34(9) Suppl.: S212 (2005). Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005, Singapore. Winner, NUS Basic Science Poster Award

107. Wang W, Goh DLM, Lee CG, Chong SS. Sequential nuclear and cytoplasmic degradation of mutant transcripts containing premature termination codons – Evidence for translation-dependent and translation-independent mechanisms. Annals Academy of Medicine Singapore 34(9) Suppl.: S213 (2005). Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005, Singapore. Finalist, NUS Basic Science Poster Award

108. Ho JFV, Chong YS, Chan YH, Lim KJ, Loganath A, Lee CG, Chong SS. Fetal HLAG genotype is associated with significantly increased risk for pre-eclampsia but not gestational hypertension in the Malay population. Annals Academy of Medicine Singapore 34(9) Suppl.: S215 (2005). Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005, Singapore. Winner, NUS Clinical Science Poster Award

109. Ho SSY, Wang W, Chong SS, Koay ESC, Rauff M, Biswas A, Choolani MA. Novel prenatal diagnosis of HbBart’s hydrops fetalis by microsatellite analysis within the breakpoints. Annals Academy of Medicine Singapore 34(9) Suppl.: S216 (2005). Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005, Singapore. Finalist, NUS Clinical Science Poster Award

110. Wang ZH, Wang BS, Tang K, Lee EJD, Chong SS, Lee CGL. Detection of genomic signatures of positive selection within MRP1 and subsequent identification of a functional promoter polymorphism. Annals Academy of Medicine Singapore 34(9) Suppl.: S257 (2005). Combined Scientific Meeting – Shaping a New Era in Healthcare, 4-6 November 2005, Singapore.

111. Choolani M, Ho SY, Chong SS, Koay ESC, Ponnusamy S, Chiu L, Wang W, Roy AC, Rauff MHJ, Su LL, Biswas A. Prenatal diagnosis of hemoglobin (Hb) Bart’s hydrops fetalis by novel analysis of microsatellite markers within the breakpoints of the --SEA deletion in alpha thalassaemia. International Society for Prenatal Diagnosis 13th International Conference on Prenatal Diagnosis and Therapy, 28-31 May 2006, Kyoto, Japan.

112. Choolani M, Ho SY, Chong SS, Koay ESC, Ponnusamy S, Chiu L, Wang W, Roy AC, Rauff MHJ, Su LL, Biswas A. Non-invasive prenatal exclusion of hemoglobin Bart’s hydrops fetalis (--SEA/ --SEA) using fetal DNA from maternal plasma. International Society for Prenatal Diagnosis 13th International Conference on Prenatal Diagnosis and Therapy, 28-31 May 2006, Kyoto, Japan. Winner, Young Scientist Award

113. Wang Z, Wang J, Tantoso E, Chong SS, Lee CGL. Identification of potentially important polymorphisms in the ABC transporter genes through their genomic signatures of recent positive selection. 11th

International Congress of Human Genetics, 6-10 August 2006, Brisbane, Australia.114. Ho SSY, Chong SS, Koay ESC, Rauff M, Su LL, Biswas A, Choolani MA. Non-invasive prenatal exclusion of

hemoglobin (Hb )Bart’s hydrops (--SEA/--SEA) using cell-free fetal DNA from the maternal plasma. National Healthcare Group Annual Scientific Congress, 30 September – 1 October 2006, Singapore.

115. Ingersoll RG, Hetmanski JB, Park JW, Fallin MD, MacIntosh I, Jabs EW, VanderKolk C, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Scott AF, Beaty TH. Association between genes on Chr 4p16 and nonsyndromic oral clefts in 4 populations. 56 th American Society of Human Genetics Meeting, 9-13 October 2006, New Orleans, LA, USA.

116. Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Chong SS, Fallin MD, Ingersoll R, Scott AF, Beaty TH. A two stage association study on chromosome 2q34-37 and Fibronectin 1 (FN1) gene in European American case-parent trios with nonsyndromic oral clefts. HGM2007 HUGO’s 12 th Human Genome Meeting, 21-24 May 2007, Montreal, Canada.

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117. Chong SS, Tan CY, Ho JFV, Chong YS, Loganath A, Chan YH, Ravichandran J, Lee CG. Paternal histoincompatibility effects of the HLA-G gene and increased risk for pre-eclampsia. 57th American Society of Human Genetics Meeting, 23-27 October 2007, San Diego, CA, USA. Abstracts handbook pp. 490.

118. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Maternal transmission effects of the RUNX2 and TCOF1 genes among cleft case-parent trios from four populations. 57 th American Society of Human Genetics Meeting, 23-27 October 2007, San Diego, CA, USA. Abstracts handbook pp. 383.

119. Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Chong SS, Fallin MD, Ingersoll R, Scott AF, Beaty TH. A two stage association study on chromosome 2q34-37 and fibronectin 1 (FN1) gene in European American case-parent trios with nonsyndromic oral clefts. 57th American Society of Human Genetics Meeting, 23-27 October 2007, San Diego, CA, USA. Abstracts handbook pp. 281.

120. Lee CG, Wang Z, Sew PH, Chong SS. A simplified single-step SNP genotyping assay – application to multiple ATP-binding cassette transporter SNPs. 57th American Society of Human Genetics Meeting, 23-27 October 2007, San Diego, CA, USA. Abstracts handbook pp. 498.

121. Ho SY, Wang W, Chiu LL, Chong SS, Koay ESC, Rauff MHJ, Su LL, Biswas A, Choolani. Development of non-invasive prenatal exclusion of alpha thalassaemia using fetal DNA from maternal plasma". 6th Singapore Congress in Obstetrics & Gynaecology, 21-25 March 2007, Conrad Centennial, Singapore.

122. Ho SY, Chong SS, Koay ESC, Rauff MHJ, Su LL, Biswas A, Choolani. Quantitative fluorescence -PCR of microsatellite markers on chromosome X: towards non-invasive prenatal exclusion of sex-linked disorders using fetal DNA from maternal plasma. 6th Singapore Congress in Obstetrics & Gynaecology, 21-25 March 2007, Conrad Centennial, Singapore.

123. Liu I, Tay SY, Ng KH, Ng JL, Sun ZJ, Chong SS, Yap HK. A novel mutation in TRPC6 is associated with autosomal dominant focal segmental glomerulosclerosis (AD FSGS). National Healthcare Group Annual Scientific Congress, 10-11 November 2007, Raffles City Convention Centre, Singapore.

124. Chang, ANS, Lee LY, Chong SS, Lai PS. Development of a novel approach for applications in preimplantation genetic diagnosis of Duchenne muscular dystrophy. NUS & MOE 19th Science Research Congress, 30 May 2007, Singapore. Proceedings of the 19th Science Research Congress 2007: 23.

125. Liu ID, Ng JL, Heng CK, Ng KH, Ng EL, Ong JFM, Ng YK, Aragon E, Yeo WS, Chong SS, Yap HK. A NPHS2 promoter polymorphism is associated with susceptibility to focal and segmental glomerulosclerosis in Singapore Chinese children. Joint Singapore Paediatric Congress & APAPARI Meeting, 3-5 October 2008, Sheraton Towers, Singapore. Paediatrics, Child and Adolescent Health 48(1) (Suppl) (2008).

126. Ng JL, Liu I, Heng CK, Ng KH, Ng EL, Aragon E, Yeo WS, Chong SS, Yap HK. NPHS2 promoter polymorphisms are associated with susceptibility to sporadic primary nephrotic syndrome in Singapore chinese children. 10th Asian Congress of Pediatric Nephrology, 28-30 August 2008, Bangkok, Thailand.

127. Ng KH, Yap HK, NG JL, Chong SS, Tay SY, Tan PH, Chiang GS. NPHS2 mutations are less common in Singapore chinese patients with nonfamilial steroid-resistant nephrotic syndrome. American Association of Clinical Chemistry Annual Meeting, 15-19 July 2007, San Diego, United States. Clinical Chemistry, 53(6) (2007).

128. Koga A, Cheah FSH, Hamaguchi S, Yeo GH, Chong SS. Germline transgenesis of zebrafish using the medaka Tol1 transposon system. 8th International Meeting on Zebrafish Development and Genetics, 25-29 June 2008, Madison, WI, USA. Abstracts handbook pp. 14. Oral Presentation

129. Cheah FSH, Winkler CW, Jabs EW, Chong SS. An essential requirement for tgf3 in zebrafish craniofacial development. 8th International Meeting on Zebrafish Development and Genetics, 25-29 June 2008, Madison, WI, USA. Abstracts handbook pp. 331.

130. Yeo GH, Cheah FSH, Winkler CW, Jabs EW, Chong SS. Distinct and overlapping expression domains of zebrafish twist2 and twist3. 8th International Meeting on Zebrafish Development and Genetics, 25-29 June 2008, Madison, WI, USA. Abstracts handbook pp. 680.

131. Omoumi A, Wang Z, Lee CG, Chong SS. A polymorphism at the MDR1 gene locus is significantly associated with non-syndromic oral clefting in a family-based association study. Human Genetics Society of Australasia 32nd Annual Scientific Meeting, 2-6 August 2008, Adelaide, Australia. Twin Research and Human Genetics 11(4): 460 (2008).

132. Chong SS, Wang W, Law HY. Single-step molecular determination of deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific quantitative melting analysis. 59th

American Society of Human Genetics Meeting, 20-24 October 2009, Honolulu, HI, USA.

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133. Teo C, Lee CG, Chong SS. Single-tube methylation-specific PCR screen for FMR1 CGG repeat structure and expansion in fragile X syndrome. 59th American Society of Human Genetics Meeting, 20-24 October 2009, Honolulu, HI, USA.

134. Murray T, Beaty TH, Hetmanski JB, Scott AF, Liang KY, Ruczinski I, Wu T, Redett R, Marazita ML, Murray J, Munger RG, Wilcox A, Lie RT, Wu-Chou YH, Wang H, Huang S, Ye X, Yeow V, Chong SS, Jee SH, Christensen K, GENEVA Consortium. Genetic distance and population structure analysis of parents drawn from a family based genome wide association study of oral clefts. International Genetic Epidemiology Society 18th Annual Conference, 18-20 October, 2009 Turtle Bay Resort, Oahu, HI, USA.

135. Beaty TH, Hetmanski JB, Scott AF, Murray T, Liang KY, Ruczinski I, Redett RA, Marazita ML, Murray JC, Munger RG, Wilcox A, Lie RT, Wu-Chou YH, Wang H, Ye X, Yeow V, Chong SS, Jee SH, Christensen K, GENEVA Consortium. Genome wide search for genes controlling risk to non-syndromic oral clefts in a consortium case-parent trio study. 59th American Society of Human Genetics Meeting, 20-24 October 2009, Honolulu, HI, USA.

136. Ng JL, Liu I, Heng CK, Ng KH, Ng EL, Aragon, Yeo WS, Chong SS, Yap HK. Podocin promoter polymorphisms are associated with susceptibility to sporadic primary nephrotic syndrome in Singapore Chinese children. National Healthcare Group Annual Scientific Congress, 16-17 October 2009, Singapore.

137. Teo C, Lee CG, Chong SS. Detection of FMR1 CGG repeat expansions from genomic DNA and single cells – a direct triplet-primed PCR approach. European Journal of Human Genetics 18(Suppl. 1): 48 (2010). European Human Genetics Conference 2010, June 12-15 2010, Gothenburg, Sweden.

138. Chong SS, Loh SF, Prasath EB, Tan ASC, Chan MLH, Tan WC, Yeo GH. Birth of a healthy baby boy after microsatellite PCR-based preimplantation genetic diagnosis of a reciprocal chromosomal translocation. European Journal of Human Genetics 18(Suppl. 1): 153 (2010). European Human Genetics Conference 2010, June 12-15 2010, Gothenburg, Sweden.

139. Lee CG, Wang J, Ronaghi M, Chong SS. Potentially functional single nucleotide polymorhphisms (pfSNP) in the human genome. European Journal of Human Genetics 18(Suppl. 1): 294-295 (2010). European Human Genetics Conference 2010, June 12-15 2010, Gothenburg, Sweden.

140. Wang H, Hetmanski JB, Wu T, Ruczinski I, Schwender H, Liang KY, Murray T, Redett RA, Raymond G, Jin SC, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Jee SH, Park BY, Ingersoll RG, Jabs EW, Scott AF, Beaty TH. The FGF/FGFR gene family and risk of cleft lip with/without cleft palate. 60th American Society of Human Genetics Meeting, 2-6 November 2010, Washington, DC, USA.

141. Murray T, Beaty TH, Hetmanski JB, Scott AF, Liang KY, Ruczinski I, Tao W, Patel P, Redett RA, Marazita ML, Murray JC, Munger RG, Wilcox A, Lie RT, Wu-Chou YH, Wang H, Huang S, Ye X, Yeow V, Chong SS, Jee SH, Christensen K. Genetic heterogeneity in parents of cleft probands and the chromosome 8q24 cleft lip/palate associated region. 60th American Society of Human Genetics Meeting, 2-6 November 2010, Washington, DC, USA.

142. Beaty TH, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Patel P, Redett RA, Schwender H, Jin SJ, Murray JC, Marazita ML, Munger RG, Wilcox A, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Doheny K, Pugh EW, Ling H, Scott AF. Genome wide study of cleft palate case-parent trios considering maternal environmental exposures. 60th

American Society of Human Genetics Meeting, 2-6 November 2010, Washington, DC, USA.143. Patel P, Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray

T, Rose M, Redett RA, Jin SJ, Wilcox A, Lie RT, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Doheny K, Pugh EW, Ling H, Scott AF. X-linked genetic factors in DMD associated with oral clefts. 60th American Society of Human Genetics Meeting, 2-6 November 2010, Washington, DC, USA.

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