Author

M. Thong

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Review Open access Sep 2026

The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia

Newborn screening (NBS) is an essential public health intervention for early detection and secondary prevention of inherited disorders in asymptomatic infants at birth. Advances in this field and the accessibility of new screening methods and therapies in the last decade have insurmountably surpassed Malaysia’s nationa...

E. J. Khoo, M. Thong, Sin-Chuen Yong et al. · International Journal of Neo... · 0 citations

Open access Jul 2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening

Reanalyzed whole-genome sequencing data from 1,578 unsolved probands and identified pathogenic variants in multiple snRNA genes, including RNU4-2, RNU2-2, RNU5B-1, and RNU4ATAC, and developed an snRNA-extended WES approach by incorporating capture probes targeting 50 snRNA genes into a standard exome design.

Yuka Nakano, Hisato Suzuki, Yukiko Kuroda et al. · iScience · 0 citations

Jul 2026

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project

The feasibility, effectiveness, and adaptability of implementing exome sequencing in resource-limited settings are demonstrated and its potential to transform rare disease diagnosis and care in low- and middle-income countries is highlighted.

Yasas D. Kolambage, C. Gonzaga-Jauregui, Guillermo Lay-Son et al. · Human Genetics · 0 citations