Amélie Piton

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

The paper identifies DGKκ as a key target of FMRP regulation through m⁶A modification, showing its role in FXS phenotypes.

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

This study investigates the molecular consequences of PQBP1 deficiency in Renpenning syndrome by analyzing gene expression and protein interactions, identifying dysregulated genes and a novel UPF3B isoform.

The paper models hAGO1 mutations in C. elegans to study their impact on miRNA function and gene expression, revealing allele-specific disruptions in miRNA profiles and gene regulation.

The paper identifies a novel FTSJ1 pathogenic variant and shows its role in neuron morphology and learning performance through RiboMethSeq and transcriptome analysis in human and Drosophila models.

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

This study identifies de novo coding variants in the AGO1 gene as a cause of a novel monogenic neurodevelopmental disorder with intellectual disability and associated behavioral features.

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

The paper identifies de novo frameshift variants in NOVA2 causing a severe neurodevelopmental disorder with intellectual disability and autistic features, and shows altered RNA splicing and functional deficits.

The paper investigates how prenatal androgens affect functional connectivity in social brain networks, finding sex-specific impacts on adolescent males.