Associated Papers
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Mak CCY et al.
Ebiomedicine, 2025
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY et al.
Brain : a Journal of Neurology, 2020
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Fung JLF et al.
Npj Genomic Medicine, 2020
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