Where I see patients (1)
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
American journal of human genetics
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Trends in molecular medicine
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ genomic medicine
Brain Development Research Program