Thomas V. Fernandez

This study investigates the genetic architecture of trichotillomania and excoriation disorder using genome-wide array data from 110 families, finding significant polygenic risk for OCD and rare CNVs in neurodevelopmental genes.

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

This study expands adaptive NKG2C+ NK cells from HBV-infected donors, showing enhanced ADCC and anti-hepatoma activity.

This paper identifies ultra-rare de novo damaging variants in ADHD cases and finds KDM5B as a high-confidence risk gene, along with enriched biological pathways.

The paper investigates gene-environment interactions related to tic severity by analyzing SNPs from GWASs of Tourette syndrome and related disorders in interaction with pre- and perinatal adversity.

The paper tracks cell lineages in humans using post-zygotic mutations and finds lineage imbalance and correlations with developmental axes.

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

This study shows that CHD8 deficiency in human iPSCs increases cell proliferation and delays neural differentiation, potentially contributing to ASD pathophysiology.

The paper identifies de novo damaging DNA mutations in CMS patients, linking them to risk genes and biological pathways related to motor stereotypies.

The paper identifies de novo damaging mutations in OCD and finds overlap with autism genes, suggesting shared genetic risk.