Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity

por Hirschi, Owen R., Felker, Stephanie A., Rednam, Surya P., Vallance, Kelly L., Parsons, D. Williams, Roy, Angshumoy, Cooper, Gregory M., Plon, Sharon E.
Publicado 2023

Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency

por Lindsay, Holly, Scollon, Sarah, Reuther, Jacquelyn, Voicu, Horatiu, Rednam, Surya P., Lin, Frank Y., Fisher, Kevin E., Chintagumpala, Murali, Adesina, Adekunle M., Parsons, D. Will, Plon, Sharon E., Roy, Angshumoy
Publicado 2019