Where I see patients (1)
My reviews
Selected research
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
American journal of human genetics
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The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Trends in molecular medicine
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ genomic medicine
4.5