Zoe Schmilovich

Integrating genomic variants and developmental milestones to predict cognitive and adaptive outcomes in autistic children

The paper develops predictive models for intellectual disability in autistic children by integrating genetic variants and developmental milestones, achieving an AUC ROC of 0.65 and identifying 10% of ID cases.

De novo variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population

This study identifies de novo variants in childhood-onset OCD in a French-Canadian cohort, finding overlaps with related disorders and suggesting biological mechanisms.

A single-cell eQTL atlas of the human cerebellum reveals vulnerability of oligodendrocytes in essential tremor

The paper constructs a single-cell eQTL atlas of the human cerebellum and identifies ET-associated variants linked to BACE2 downregulation in oligodendrocytes, suggesting demyelination and dysfunctional interactions.

Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability

This study shows that rare CNVs and PRS-IQ increase ASD risk independently of their effects on cognitive ability, suggesting ASD risk and cognitive ability are distinct outcomes of these variants.

Exploring the common genetic architecture of autism spectrum disorder using a novel multi-polygenic risk score approach

The paper introduces a multi-polygenic risk score approach to study ASD's genetic architecture, finding that multi-PRSs capture similar risk as traditional PRS-ASD but reveal developmental mirroring effects.

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

The paper investigates how copy number variants in circadian pathway and insomnia risk genes contribute to ASD risk and sleep disturbances in children with ASD.

Rare and common variant analyses of amyotrophic lateral sclerosis in the French-Canadian genome

This study analyzes rare and common variants in ALS using French-Canadian data, finding that PRS and rare variants independently affect risk but do not interact significantly.