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
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T et al.
Clinical Epigenetics, 2022
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
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