Antonio Novelli

The paper shows that systemic memory B cells traffic to mucosal sites in the upper respiratory tract, contributing to local immunity, and that antigen-specific B cells accumulate there only during local inflammation.

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

This study uses network analysis in Drosophila melanogaster to identify mitochondrial genes associated with aging and age-related diseases.

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.

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.

This study compares genomic variations in immune-related genes between Qatari and Italian populations to identify differences in selective pressures.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

The paper analyzes ACE2 genetic variants in 99 COVID-19 patients using whole-exome sequencing and finds no allelic association with disease severity or sex bias.

The paper identifies two methylation-based episignatures in ADNP syndrome but finds limited correlation with clinical phenotypes.