De novo variants in TAOK1 cause neurodevelopmental disorders
Many of the as yet undescribed genetic disorders are ultra-rare. Identification of novel gene-disease associations thus relies on well-curated clinical-genetic data such as contained in CENTOGENE’s proprietary database CentoMD®. In a pertinent recent research project, CentoMD® was used to unravel a novel cause of neurodevelopmental delay. The findings were published in the prestigious American Journal of Human Genetics.