Area of research
Neurology · Rheumatology
Research interest
Research focused on Proband and Sanger sequencing, with related work in Penetrance, Asymptomatic, Epilepsy. Notable publications include 'Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China', 'Intronic (TTTGA) n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy', and 'Neuronal intranuclear inclusion disease tremor‐dominant subtype: A mimicker of essential tremor'.
Neuronal intranuclear inclusion disease tremor‐dominant subtype: A mimicker of essential tremor
<i>MYORG</i> Mutation Heterozygosity Is Associated With Brain Calcification
Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China
Intronic (TTTGA)<sub>n</sub> insertion in <i>SAMD12</i> also causes familial cortical myoclonic tremor with epilepsy