Associated Papers
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
Kim JM et al.
Human Genomics, 2025
39762984 (PubMed )
Supplement: 40246_2024_709_MOESM1_ESM.pdf
Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.
Yang M et al.
Journal of Korean Medical Science, 2024
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Ali FM et al.
Bmc Pediatrics, 2024
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