Functional analysis of GALT variants found in classic galactosemia patients using a novel cell‐free translation method

por Canson, Daffodil M., Silao, Catherine Lynn T., Caoili, Salvador Eugenio C.
Publicado 2019

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

por Canson, Daffodil M., O’Mara, Tracy A., Spurdle, Amanda B., Glubb, Dylan M.
Publicado 2023

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

por Canson, Daffodil M, Davidson, Aimee L, de la Hoya, Miguel, Parsons, Michael T, Glubb, Dylan M, Kondrashova, Olga, Spurdle, Amanda B
Publicado 2023

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

por Chiong, Mary Anne D., Canson, Daffodil M., Abacan, Mary Ann R., Baluyot, Melissa Mae P., Cordero, Cynthia P., Silao, Catherine Lynn T.
Publicado 2017

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

por Walker, Logan C., de la Hoya, Miguel, Wiggins, George A.R., Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T, Canson, Daffodil M, Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B, Pesaran, Tina, Karam, Rachid, Harrison, Steven, Spurdle, Amanda B
Publicado 2023

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

por Davidson, Aimee L., Dressel, Uwe, Norris, Sarah, Canson, Daffodil M., Glubb, Dylan M., Fortuno, Cristina, Hollway, Georgina E., Parsons, Michael T., Vidgen, Miranda E., Holmes, Oliver, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E., Pickett, Hilda A., Al-Shinnag, Mohammad K., Austin, Rachel L., Burke, Jo, Cops, Elisa J., Nichols, Cassandra B., Goodwin, Annabel, Harris, Marion T., Higgins, Megan J., Ip, Emilia L., Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L., Millward, Michael W., Monnik, Melissa J., Pachter, Nicholas S., Ragunathan, Abiramy, Susman, Rachel D., Townshend, Sharron L., Trainer, Alison H., Troth, Simon L., Tucker, Katherine M., Wallis, Mathew J., Walsh, Maie, Williams, Rachel A., Winship, Ingrid M., Newell, Felicity, Tudini, Emma, Pearson, John V., Poplawski, Nicola K., Mar Fan, Helen G., James, Paul A., Spurdle, Amanda B., Waddell, Nicola, Ward, Robyn L.
Publicado 2023