Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease

CONCLUSIONS AND RELEVANCE: The study findings suggest neurodevelopmental outcomes are not associated with dDNVs as a group but may be worse in individuals with dDNVs and/or pLOFs in some gene sets, such as chromatin-modifying genes. Future studies should confirm the importance of specific gene variants to brain function and structure.

via https://pubmed.ncbi.nlm.nih.gov/36701153/?utm_source=no_user_agent&utm_medium=rss&utm_campaign=None&utm_content=1HYeX0emtvYgH07Wkz0a8n9otrdMd-JIklc_uo0I5vh1u9WMEy&fc=None&ff=20230127010804&v=2.17.9.post6+86293ac