The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Sign Up to like & getrecommendations! Published in 2019 at "Trends in Neurosciences"
DOI: 10.1016/j.tins.2018.11.002
Abstract: Advances in sequencing technology have significantly expanded our understanding of the genetics of autism and neurodevelopmental disorders (NDDs). Continued technological improvements and cost reductions have now shifted the focus to investigations into the functional noncoding… read more here.
Keywords: mutations neurodevelopmental; role novo; regulatory mutations; novo noncoding ... See more keywords
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
Sign Up to like & getrecommendations! Published in 2017 at "Genome Medicine"
DOI: 10.1186/s13073-017-0498-x
Abstract: Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to… read more here.
Keywords: recurrent novo; properties clinical; mutations neurodevelopmental; disorders properties ... See more keywords