Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders

por Rajan-Babu, Indhu-Shree, Chong, Samuel S.
Publicado 2016

Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotypi...

por Lian, Mulias, Lee, Caroline G., Chong, Samuel S.
Publicado 2019

Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes

por Jin, Yu, Wang, Jingbo, Bachtiar, Maulana, Chong, Samuel S., Lee, Caroline G. L.
Publicado 2018

Triplet-primed PCR and Melting Curve Analysis for Rapid Molecular Screening of Spinocerebellar Ataxia Types 1, 2, and 3

por Lian, Mulias, Zhao, Mingjue, Phang, Gui-Ping, Rajan-Babu, Indhu-Shree, Chong, Samuel S.
Publicado 2023

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots

por Tan, Vivienne J., Lian, Mulias, Faradz, Sultana M.H., Winarni, Tri I., Chong, Samuel S.
Publicado 2018

Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis

por Rajan-Babu, Indhu-Shree, Law, Hai-Yang, Yoon, Chui-Sheun, Lee, Caroline G., Chong, Samuel S.
Publicado 2015

Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay

por Zhao, Mingjue, Cheah, Felicia S. H., Chen, Min, Lee, Caroline G., Law, Hai-Yang, Chong, Samuel S.
Publicado 2017

Identification of Novel Microsatellite Markers Flanking the SMN1 and SMN2 Duplicated Region and Inclusion Into a Single-Tube Tridecaplex Panel for Haplotype-Based Preimplantation G...

por Zhao, Mingjue, Lian, Mulias, Cheah, Felicia S.H., Tan, Arnold S.C., Agarwal, Anupriya, Chong, Samuel S.
Publicado 2019

Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region

por Wang, Zihua, Sew, Pui-Hoon, Ambrose, Helen, Ryan, Stephen, Chong, Samuel S, Lee, Edmund JD, Lee, Caroline GL
Publicado 2006

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka

por Chandrasekara, C. H. W. M. R. Bhagya, Wijesundera, W. S. Sulochana, Perera, Hemamali N., Chong, Samuel S., Rajan-Babu, Indhu-Shree
Publicado 2015

Architecture of population-differentiated polymorphisms in the human genome

por Bachtiar, Maulana, Jin, Yu, Wang, Jingbo, Tan, Tin Wee, Chong, Samuel S., Ban, Kenneth H. K., Lee, Caroline G. L.
Publicado 2019

Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping

por Zhao, Mingjue, Cheah, Felicia Siew Hong, Tan, Arnold Sia Chye, Lian, Mulias, Phang, Gui Ping, Agarwal, Anupriya, Chong, Samuel S.
Publicado 2019

Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms

por Bachtiar, Maulana, Ooi, Brandon Nick Sern, Wang, Jingbo, Jin, Yu, Tan, Tin Wee, Chong, Samuel S., Lee, Caroline G. L.
Publicado 2019

FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India

por Nagarathinam, Indhumathi, Chong, Samuel S., B. K., Thelma, Justin Margret, Jeffrey, Venkataraman, Viswanathan, Natarajan Padmavathy, Karthikeyen, Srisailapathy, C. R. Srikumari
Publicado 2021

Machine Learning Identifies a Signature of Nine Exosomal RNAs That Predicts Hepatocellular Carcinoma

por Yap, Josephine Yu Yan, Goh, Laura Shih Hui, Lim, Ashley Jun Wei, Chong, Samuel S., Lim, Lee Jin, Lee, Caroline G.
Publicado 2023

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene

por Lim, Grace X. Y., Yeo, Minli, Koh, Yvonne Y., Winarni, Tri Indah, Rajan-Babu, Indhu-Shree, Chong, Samuel S., Faradz, Sultana M. H., Guan, Ming
Publicado 2017

FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome

por Rajan-Babu, Indhu-Shree, Lian, Mulias, Cheah, Felicia S.H., Chen, Min, Tan, Arnold S.C., Prasath, Ethiraj B., Loh, Seong Feei, Chong, Samuel S.
Publicado 2017

Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test

por Leferink, Maike, Wong, Daphne P. W., Cai, Shiwei, Yeo, Minli, Ho, Jocelin, Lian, Mulias, Kamsteeg, Erik-Jan, Chong, Samuel S., Haer-Wigman, Lonneke, Guan, Ming
Publicado 2019

Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients

por Wang, Jingbo, Wang, Xu, Zhao, Mingjue, Choo, Su Pin, Ong, Sin Jen, Ong, Simon Y. K., Chong, Samuel S., Teo, Yik Ying, Lee, Caroline G. L.
Publicado 2014

Robust SNP-based prediction of rheumatoid arthritis through machine-learning-optimized polygenic risk score

por Lim, Ashley J. W., Tyniana, C. Tera, Lim, Lee Jin, Tan, Justina Wei Lynn, Koh, Ee Tzun, Chong, Samuel S., Khor, Chiea Chuen, Leong, Khai Pang, Lee, Caroline G.
Publicado 2023