Development and validation of a next-generation sequencing panel for clinical pharmacogenetics

by Luis Ramudo-Cela, Jesús María López-Martí, Daniel Colmeiro-Echeberría, David de-Uña-Iglesias, José Luis Santomé-Collazo, Lorenzo Monserrat-Iglesias
Published 2020-11-01

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

by Mario Torrado, Germán Fernández, Christian A. Ganoza, Emilia Maneiro, Diego García, Natalia Sonicheva-Paterson, Isaac Rosa, Juan Pablo Ochoa, Luis Santomé, Elena Vasichkina, Lorenzo Monserrat
Published 2021-03-01