Associated Papers
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40127276 (PubMed )
Supplement: pnas.2420343122.sd04.xlsx › DS4._Panel_Mutations
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Charif M et al.
Frontiers in Genetics, 2015
26539208 (PubMed )
Supplement: Table_1.XLSX › Feuil1
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