Isabelle Schrauwen

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

This study profiles RNA expression in MSA cerebellar tissue, identifying distinct transcriptional signatures between parkinsonian and cerebellar subtypes, with greater dysregulation observed in the cerebellar subtype.

The paper identifies genes associated with Rett syndrome-like (RTT-L) phenotype through whole exome sequencing and protein-protein interaction network analysis, revealing shared pathways with classical Rett syndrome.