Jair Antonio Tenorio

Bone2Gene uses deep learning to classify rare bone diseases from hand radiographs, achieving high accuracy for distinct disorders but lower for overlapping ones.

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

The paper identifies BSN variants as a cause of a new neurodevelopmental disorder with a broad phenotypic range, using clinical data and computational phenotyping.

The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

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.