Area of research
Molecular Biology · Neurology
Research interest
Research interests include Biology, Neuroscience, Epilepsy, Medicine, Psychology, and C9orf72.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
<i>ATP6V0C</i> variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Clinical findings of 21 previously unreported probands with <i>HNRNPU</i>‐related syndrome and comprehensive literature review
Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia
Recurrent duplications of 17q12 associated with variable phenotypes