List of works - Meow-Keong Thong

22q11.2 deletion syndrome in diverse populations.

scientific article published in April 2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

scientific article

A case-control study of breast cancer risk factors in 7,663 women in Malaysia

scientific article published in PLoS ONE

A comparative study of patients' perceptions of genetic and genomic medicine services in California and Malaysia

scientific article published on 03 December 2018

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

article

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.

scientific article published on 23 February 2010

An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children

scientific article published on 14 March 2018

Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia

scientific article

Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country

scientific article published on 11 September 2015

Birth defects registries in the genomics era: challenges and opportunities for developing countries.

scientific article

Characterisation of beta-globin gene mutations in Malaysian children: a strategy for the control of beta-thalassaemia in a developing country

scientific article published on 20 June 2005

Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia

scientific article published on 01 January 2001

Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

scientific article

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

scientific article published on December 2014

Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.

scientific article published on 26 January 2009

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Cranial neural tube defect after trimethoprim exposure

scientific article published on 16 July 2018

Crouzon syndrome: Genetic and intervention review

article

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

scientific article

Dengue shock syndrome and acute respiratory distress syndrome

scientific article published on 01 November 1998

Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients

scientific article published on May 2017

Down syndrome in diverse populations.

scientific article published in January 2017

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

scientific article published in April 2003

Effects of sharing information on drug administration errors in pediatric wards: a pre-post intervention study

scientific article published on 23 March 2017

Erratum to: recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history

scientific article published on 01 April 2015

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

scientific article

Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family

scientific article published on 01 January 2005

GWAS signals revisited using human knockouts.

scientific article published on 22 June 2017

Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study

scientific article published on 01 June 2011

Genetic counseling services and development of training programs in Malaysia

scientific article published on 25 April 2013

Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics

scientific article published on 19 September 2013

Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia

scientific article

Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing

scientific article published on 03 February 2016

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

scientific article published on 26 March 2015

Is BRCA Mutation Testing Cost Effective for Early Stage Breast Cancer Patients Compared to Routine Clinical Surveillance? The Case of an Upper Middle-Income Country in Asia

scientific article published on 23 March 2018

Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities

scientific article published on 10 August 2018

Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware

scientific article published on 16 September 2015

Prenatal detection of birth defects in a Malaysian population: estimation of the influence of termination of pregnancy on birth prevalence in a developing country

scientific article published on 01 February 2006

Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.

scientific article

Quality of life of children with tuberous sclerosis complex

scientific article published on 23 May 2019

Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history

scientific article

Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.

scientific article published in January 2017

The first Malay database toward the ethnic-specific target molecular variation

scientific article published on 30 April 2015

Training in clinical genetics and genetic counseling in Asia

scientific article published on 29 April 2019

Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.

scientific article published on September 2012

List of works by Meow-Keong Thong

22q11.2 deletion syndrome in diverse populations.

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

A case-control study of breast cancer risk factors in 7,663 women in Malaysia

A comparative study of patients' perceptions of genetic and genomic medicine services in California and Malaysia

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.

An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children

Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia

Beyond Critical Congenital Heart Disease: Newborn Screening Using Pulse Oximetry for Neonatal Sepsis and Respiratory Diseases in a Middle-Income Country

Birth defects registries in the genomics era: challenges and opportunities for developing countries.

Characterisation of beta-globin gene mutations in Malaysian children: a strategy for the control of beta-thalassaemia in a developing country

Combine-ARMS: a rapid and cost-effective protocol for molecular characterization of beta-thalassemia in Malaysia

Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency.

Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.

Cornelia de Lange syndrome in diverse populations

Cranial neural tube defect after trimethoprim exposure

Crouzon syndrome: Genetic and intervention review

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Dengue shock syndrome and acute respiratory distress syndrome

Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients

Down syndrome in diverse populations.

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Effects of sharing information on drug administration errors in pediatric wards: a pre-post intervention study

Erratum to: recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency

Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family

GWAS signals revisited using human knockouts.

Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study

Genetic counseling services and development of training programs in Malaysia

Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics

Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia

Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

Is BRCA Mutation Testing Cost Effective for Early Stage Breast Cancer Patients Compared to Routine Clinical Surveillance? The Case of an Upper Middle-Income Country in Asia

Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities

Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware

Prenatal detection of birth defects in a Malaysian population: estimation of the influence of termination of pregnancy on birth prevalence in a developing country

Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.

Quality of life of children with tuberous sclerosis complex

Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history

Sandhoff disease in two siblings of a Malaysian family: Description of novel beta hexosaminidase mutations, magnetic resonance imaging, and spectroscopic findings.

The first Malay database toward the ethnic-specific target molecular variation

Training in clinical genetics and genetic counseling in Asia

Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients.