Luis Alberto Pérez Jurado

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

This study develops a humanized yeast model to study TRAPP complex mutations, showing that human TRAPPC1 variants cause secretion and autophagy defects in yeast, mirroring human fibroblast defects.

NetActivity improves gene set activity scores by using interpretable autoencoders, showing better consistency and biological relevance in prostate cancer analysis.

The paper investigates the effect of curcumin and verapamil on cardiovascular phenotype in a Williams-Beuren Syndrome mice model, finding reduced oxidative stress and improved cardiovascular outcomes.

MADloy improves mLOY detection using genotype-array-intensity data, showing better accuracy and statistical power in disease association studies.

The paper identifies clonal chromosomal mosaicism and loss of chromosome Y as risk factors for severe SARS-CoV-2 outcomes in elderly males.

The paper identifies common polymorphic inversions associated with multiple common diseases and suggests their role in shared genetic susceptibility.

bigSCale is a scalable framework for analyzing large single-cell RNA sequencing datasets, showing improved speed and accuracy in differential expression analysis and identifying rare cell populations.