Laïla El Khattabi

The paper identifies phosphorylation of NEUROGENIN2 as a regulator of human radial glial cell neuronal output, leading to increased production of upper-layer neurons.

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

This study shows that DOT1L has opposing effects on gene expression in mouse spermatogenesis depending on chromatin environment, repressing some genes and activating others, particularly on the X chromosome.

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

The paper examines how assortative mating and parental genetic relatedness influence the pathogenicity of variably expressive variants in neurodevelopmental disorders.

This study shows that DOT1L regulates chromatin reorganization and gene expression in male germ cells, leading to fertility defects in its absence.

This study evaluates high-resolution optical mapping for detecting chromosomal aberrations in 85 samples, achieving 100% concordance with standard tests for non-centromeric breakpoints.