Gijs W.E. Santen

This study investigates the role of SMARCB1 in brain function and structure using a mouse model and human patients, finding deficits in motor coordination, spatial memory, and dendritic morphology.

The paper shows ARID1A-haploinsufficiency impairs EMT in CNCC specification by disrupting ARID1A-BAF binding at EMT enhancers, which affects ZIC2 occupancy and leads to aberrant neuronal gene activation.

PhenomAD-NDD aggregates comorbid phenotypic data from 51,227 pediatric NDD individuals to identify enriched symptoms and improve clinical understanding.

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

PhenoScore quantifies phenotypic similarity using AI and HPO data to improve genetic variant interpretation and genotype-phenotype studies.

This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

This study shows that failure to switch from ARID1A-BAF to ARID1B-BAF in patient-derived cells impairs neural crest formation in Coffin-Siris syndrome.