Ingrid M.B.H. van de Laar

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

This study generates and characterizes induced pluripotent stem cell models with SMAD3 mutations to investigate LDS3 aneurysm formation mechanisms.

This study investigates the functional impact of SMAD3 variants in patient-derived cells, showing distinct effects of dominant negative and haploinsufficient variants on disease manifestations and age of onset.

This study uses RNA-seq to improve diagnosis of neurodevelopmental disorders by identifying non-coding variants and reinterpreting coding variants, increasing diagnostic yield by 12%.

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.