Associated Papers
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
O'Neill MJ et al.
Nature Communications, 2024
39333091 (PubMed )
Supplement: 41467_2024_52474_MOESM1_ESM.pdf
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.
Yuan M et al.
Frontiers in Cardiovascular Medicine, 2021
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.
Frisso G et al.
International Journal of Molecular Sciences, 2016
27834932 (PubMed )
Supplement: ijms-17-01883-s001.pdf
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.
Di Resta C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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