De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
- F. Tran Mau-Them
- , L. Guibaud
- , L. Duplomb
- , B. Keren
- , K. Lindstrom
- , I. Marey
- , F. Mochel
- , M. J. van den Boogaard
- , R. Oegema
- , C. Nava
- , A. Masurel
- , T. Jouan
- , F. E. Jansen
- , M. Au
- , Agnes H. Chen
- , M. Cho
- , Y. Duffourd
- , E. Lozier
- , F. Konovalov
- , A. Sharkov
- Division of Genetics and Genomic Medicine
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- Institute of Clinical and Translational Sciences (ICTS)
- Siteman Cancer Center
- Department of Pediatrics
- Intellectual and Developmental Disabilities Research Center (IDDRC)
- Hope Center for Neurological Disorders
- Bursky Center for Human Immunology and Immunotherapy
Research output: Contribution to journal › Article › peer-review
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