Caroline Dias

This study uses long-read sequencing to reveal extensive somatic mosaicism in FMR1 repeats and methylation in FXTAS brain tissue, identifying expansions and contractions beyond traditional methods' resolution.

This study identifies compound heterozygous splice site mutations in LNPK causing neurodevelopmental syndrome, showing exon-skipping and genetic compensation through NMD pathway inhibition.

This study shows that sparse neuronal C4 elevation induces broad transcriptomic and lipid-droplet remodeling in the cortical microenvironment, suggesting non-cell-autonomous effects on neighboring cells.

This study examines how dup15q affects gene expression and chromatin accessibility in specific brain cell types, finding cell-type-specific effects and distinct regulatory mechanisms in ASD and dup15q.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

This study uses single-nucleus RNA-sequencing to analyze glial dysregulation in Fragile X-related disorders, finding FMR1 mRNA reduction in FXS and glial upregulation in premutation cases.

This study identifies de novo and polymorphic retrotransposon insertions in ASD families, finding increased exonic and intronic insertions in ASD cases compared to controls.

The paper investigates the role of mosaic copy number variants (mCNVs) in autism spectrum disorder (ASD) by analyzing genetic data from ASD probands and unaffected siblings, finding a significant association between large mCNVs and ASD risk.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.