Associated Papers
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S et al.
Frontiers in Immunology, 2023
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