Marielle M. Alders

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

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.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

This study identifies a homozygous ERAL1 mutation as the cause of Perrault syndrome, showing it disrupts mitochondrial ribosome assembly and function.