Christian Thomas Thiel

The paper identifies LAMA5 as a candidate gene for idiopathic short stature, showing its role in ECM-WNT signaling during chondrogenesis and demonstrating partial rescue via WNT activation.

This study uses R405W desmin knock-in mice to identify mitochondrial dysfunction, protein quality control issues, and myofibrillar structural changes in myofibrillar myopathy.

The paper establishes urine-derived stem cells (USCs) as a non-invasive source for chondrogenesis, revealing cell hierarchy and differentiation trajectories through single-cell RNA sequencing.

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.

The paper identifies and characterizes TUBA1A variants in 166 individuals with tubulinopathy, highlighting common phenotypes and genotype-phenotype associations.