Julien Buratti

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.

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 and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.

This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.