February 21, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of...
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
November 24, 2021
Functional assay-based classification of PMS2 variants in Lynch Syndrome
Emily Rayner, Yvonne Tiersma, Cristina Fortuno, et al.
March 10, 2020
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonizat...
Daffodil Canson, Dylan Glubb, Amanda Spurdle, et al.