Lilia M. Iakoucheva

The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.

This study shows therapeutic acetaminophen exposure does not significantly alter human cortical organoid development at the molecular or functional level.

The paper identifies molecular pathways associated with neurodevelopmental disorder subgroups using neuroimaging data from mice and humans.

This study shows that autism spectrum disorder risk is influenced by rare variants, polygenic risk, and sex, with sex-specific effects on genetic liability and behavioral traits.

This study uses cortical organoids derived from patients with 16p11.2 CNV to show altered neurodevelopmental processes, including changes in organoid size, neuronal maturation, and migration.

The paper analyzes full-length splicing isoforms in the developing human brain to identify isoform-level changes associated with neurodevelopmental disorders and highlights the importance of studying mutations at the isoform level.

This study shows that Cul3 haploinsufficiency in mice causes social and cognitive deficits, cortical volume reduction, and cytoskeletal defects, which are rescued by RhoA inhibition.

MutPred2 identifies pathogenic amino acid variants, predicts their molecular mechanisms, and validates their functional impact in neurodevelopmental disorders.

The paper investigates the oligogenic effects of 16p11.2 copy number variation on craniofacial development across species, showing that individual genes and their combinations influence facial structure.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.