Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation.
Wang G et al.
Frontiers in Molecular Neuroscience, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Chung HL et al.
Human Molecular Genetics, 2022
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