Author
Universitat Autònoma de BarcelonaORCID 0000-0002-5964-536XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal…·Michel Vidaud
The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.
Peng Zhang, Quentin Philippot, Weicheng Ren…·Jean‐Laurent Casanova
The paper introduces BPHunter, a computational tool to detect intronic variants disrupting branchpoints, identifies known and novel mutations, and validates them experimentally.
Margherita Baldassarri, Nicola Picchiotti, Francesca Fava…·Francesca Andretta
The paper identifies shorter androgen receptor polyQ alleles as protective against severe COVID-19 in males using machine learning on whole-exome sequencing data from the GEN-COVID cohort.