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.sapp.pdf
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
Chaves Rabelo N et al.
The Application of Clinical Genetics, 2022
Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.
Solman M et al.
Frontiers in Cell and Developmental Biology, 2022
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
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