De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
Laurens Wiel, Juliet E. Hampstead, Hanka Venselaar, Lisenka E.L.M. Vissers, Han G. Brunner, Rolph Pfundt, Gerrit Vriend, Joris Andre Veltman, Christian Gilissen
The paper identifies function-altering de novo mutations in neurodevelopmental disorders by analyzing mutational hotspots across homologous protein domains.
The American Journal of Human Genetics · Dec 22, 2022Peer-reviewedGenetic & Genomic Medicine