Daffodil M. Canson

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 254 citations · Full text

Acmg/amp Framework, Systems Biology, Functional Genomics +9

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

Mary Anne D. Chiong, Daffodil M. Canson, Mary Ann R. Abacan et al. · Orphanet Journal of Rare Diseases · 2017 · 29 citations · Full text

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

Daffodil M. Canson, Aimee L. Davidson, Miguel de la Hoya et al. · Bioinformatics · 2023 · 20 citations · Full text

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · 2023 · 15 citations · Full text