Natàlia Padilla

Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A

The paper evaluates variant effect predictions for ARSA gene variants, finding that a bootcamp-trained model outperformed others and that deep learning slightly improved performance over simpler methods.

Choosing variant interpretation tools for clinical applications: context matters

The paper introduces cost models to compare pathogenicity predictors in clinical contexts, showing no optimal predictor exists for all scenarios and highlighting the importance of rejection classifiers.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

New genes involved in Angelman syndrome-like: expanding the genetic spectrum

The paper identifies new genetic variants in patients with Angelman syndrome-like features, expanding the known genetic spectrum and highlighting genetic heterogeneity.