CDK20 is a ciliary kinase not previously linked to human disease. Lemire et al. report seven individuals with bi-allelic CDK20 variants, midline brain and facial anomalies, and impaired cilium formati...

European Journal of Human Genetics - Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome

To report clinical, multimodal imaging, electrophysiologic, and genetic findings in a cohort of patients with posterior microphthalmia (PM), with emphasis on long-term visual function, a feature rarely addressed in current literature.

Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large del...

A next-generation KMT2D episignature, defined using the largest Kabuki syndrome type 1 cohort to date, can be used to map pathogenic variants using array or long-read platforms, to improve missense va...

Xue and colleagues show that iPSCs from Bosma syndrome (BAMS) individuals have a reduced capacity of differentiation into cranial placode cells and the subsequent lens and olfactory lineages. These ce...