If you don't have an account, click here to request an account.
Daniali M, et al. 2023. Enriching representation learning using 53 million patient notes through human phenotype ontology embedding. Artif Intell Med (May 2023)
Forrest MP, et al. 2023. Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub. Nat Commun (Feb 2023)
Ruggiero SM, et al. 2023. The current landscape of epilepsy genetics: where are we, and where are we going? Curr Opin Neurol (Apr 2023)
Clatot J, et al. 2023. A KCNC1-related neurological disorder due to gain of Kv3.1 function. Ann Clin Transl Neurol (Jan 2023)
Parthasarathy S, et al. 2022. A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. Am J Hum Genet (Dec 2022)