Miriam Schmidts

PGRanker improves Mendelian gene prioritization by integrating phenotype data with gene networks using graph learning, achieving higher recall and better ranking of causal genes.

This study examines how hypomorphic IFT and dynein-2 mutations affect chondrogenic differentiation, ECM composition, and Wnt signaling in ATDC5 organoids, revealing genotype-dependent changes in signaling pathways and ECM.

This study performs time-resolved transcriptomic and ECM proteomic analyses of differentiating ATDC5 cells to characterize chondrogenesis and cartilage ECM formation.

The paper identifies a homozygous WNT11 variant causing laterality, heart, and renal defects in an infant and shows its loss-of-function in Xenopus embryos.

The paper identifies gene-metabolite associations using exome sequencing and metabolomics, revealing graded effects of rare variants on traits and diseases.

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.