Olivier M. Vanakker

The paper identifies conserved transcription factors regulating PPi homeostasis genes in mice and humans, showing co-expression and functional links to mineralization factors.

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.

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 investigates incomplete penetrance of the p.R391G ABCC6 variant in pseudoxanthoma elasticum, suggesting the need for an interacting partner for disease development.

This study identifies NEUROD2 mutations linked to ASD and intellectual disability, showing their role in cortical development and function through mouse models.