Associated Papers
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Caraffi SG et al.
European Journal of Human Genetics : Ejhg, 2024
38351292 (PubMed )
Supplement: 41431_2024_1548_MOESM1_ESM.pdf
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
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