Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants
Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
Hernándiz A et al.
Clinical Genetics, 2021
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Renner S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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