Rebeca Borges-Monroy

This study identifies circRNAs specific to dopamine and pyramidal neurons and links them to neuropsychiatric diseases.

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

This paper shows that TDP-43 expression in Drosophila causes retrotransposon activation, leading to neurodegeneration through DNA damage and programmed cell death.