| 1 | MRSHM, SMARCD1 |
| A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. | |
| Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N; DDD Study, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM, Campeau PM. | |
| Am J Hum Genet 104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14. 2019 | |