Publications
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med 23, 653-660 (2021).
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol 5, 1277-1285 (2018).
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. Am J Med Genet A 173, 2275-2279 (2017).
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep 12, 1169-83 (2015).