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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Episignature Mapping of TRIP12 provides functional insight into Clark-Baraitser Syndrome
Comprehensive analysis of neuronal guidance cue expression regulation during monocyte-to-macrophage differentiation reveals post-transcriptional regulation of semaphorin7A by the RNA-binding protein quaking
De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas
Two-Year Refractive Outcomes After Descemet Membrane Endothelial Keratoplasty
Quaking promotes monocyte differentiation into pro-atherogenic macrophages by controlling pre-mRNA splicing and gene expression.
Quaking promotes monocyte differentiation into pro-atherogenic macrophages by controlling pre-mRNA splicing and gene expression
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
