Pablo Daniel Lapunzina

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

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

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

This study calculates polygenic risk scores for idiopathic pulmonary fibrosis (IPF) and finds they are associated with increased risk of severe COVID-19 outcomes, particularly in younger males.

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.

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 somatic activating PIK3CA mutations in CLAPO syndrome patients and updates the syndrome's phenotype and natural history.