| 1 | HERC2, MRAGI |
| Mutation of HERC2 causes developmental delay with Angelman-like features. | |
| Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH. | |
| J Med Genet 50(2):65-73. doi: 10.1136/jmedgenet-2012-101367. Epub 2012 Dec 14. 2013 | |
| 2 | HERC2, MRAGI |
| A Homozygous Missense Mutation in HERC2 Associated with Global Developmental Delay and Autism Spectrum Disorder. | |
| Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH, Strauss KA. | |
| Hum Mutat um Mutat. 2012 Oct 15. doi: 10.1002/humu.22237. [Epub ahead of print] 2012 | |