Chiara Fallerini

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

The paper validates the NovaSeq6000 RUO platform with automated library preparation for clinical-grade whole-exome sequencing, showing equivalence to the CE-IVD certified system.

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

This paper improves a genetic score for predicting COVID-19 severity by incorporating organ-specific weights derived from Boolean quantum features and genetic algorithms.

The paper shows that the L412F polymorphism in TLR3 is associated with severe COVID-19 in males by inhibiting autophagy and reducing TNF production.

The paper develops a machine learning model to predict COVID-19 severity using exonic variants from whole exome sequencing data, finding that variants across all frequency categories contribute to severity.

The paper identifies a genetic variant in the SELP gene associated with increased thrombosis risk in male COVID-19 patients, suggesting potential for anti-P-selectin antibody therapy.

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 describes a biobanking initiative collecting genetic and clinical data from over 1,000 SARS-CoV-2-positive individuals to study multi-organ involvement and genetic factors in COVID-19 severity.

The paper proposes a post-Mendelian genetic model integrating common and rare variants to predict severe vs. mild COVID-19 outcomes in an Italian cohort.

The paper identifies rare TLR7 variants associated with severe COVID-19 in young males, suggesting a genetic basis for disease susceptibility.

The paper reports Whole Exome Sequencing analysis of 35 hospitalized COVID-19 patients, identifying pathogenic mutations linked to virus infection susceptibility and disease progression.

The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.