Maria Fasolino

Impact of intragenic NRXN1 deletions on early cortical development

This study investigates the impact of NRXN1 intronic deletions on early cortical development using hiPSCs, finding altered isoform expression and dendritic morphology.

Aberrant TNF signaling in pancreatic lymph nodes of patients with Type 1 Diabetes

This study identifies heightened TNF pathway activity and chromatin remodeling in pancreatic lymph node CD4+ T cells from T1D patients, supporting the use of TNF inhibitors in clinical trials.

Sleep and Activity Patterns in Autism Spectrum Disorder

The paper identifies sleep and activity patterns associated with autism spectrum disorder using wearable data and machine learning.

A multi-enhancer hub at the Ets1 locus controls T cell differentiation and allergic inflammation through 3D genome topology

Multiomics single-cell analysis of human pancreatic islets reveals novel cellular states in health and type 1 diabetes

Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

This study identifies robust gene-phenotype associations by analyzing rare loss-of-function variants in exome-wide data linked to electronic health records.

TooManyCells identifies and visualizes relationships of single-cell clades

TooManyCells identifies and visualizes cell clades using graph-based tools, outperforming existing methods in detecting rare populations in single-cell RNA-seq data.