| 1 | ADARB1, NEDHYMS |
| Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. | |
| Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, Basel-Salmon L, Cohen L, Straussberg R, Chung WK, Helal M, Maroofian R, Houlden H, Juusola J, Sadedin S, Pais L, Howell KB, White SM, Christodoulou J, O'Connell MA. | |
| Am J Hum Genet. Apr 2;106(4):467-483. doi: 10.1016/j.ajhg.2020.02.015. Epub 2020 Mar 26 2020 | |
| 2 | ADARB1, NEDHYMS |
| Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. | |
| Maroofian R, Sedmík J, Mazaheri N, Scala M, Zaki MS, Keegan LP, Azizimalamiri R, Issa M, Shariati G, Sedaghat A, Beetz C, Bauer P, Galehdari H, O'Connell MA, Houlden H. | |
| J Med Genet. Jul 27:jmedgenet-2020-107048. doi: 10.1136/jmedgenet-2020-107048. Online ahead of print 2020 | |