| 1 | MRD30, ZMYND11 |
| A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. | |
| Cobben JM, Weiss MM, van Dijk FS, De Reuver R, de Kruiff C, Pondaag W, Hennekam RC, Yntema HG. | |
| Eur J Med Genet 57(11-12):636-8. doi: 10.1016/j.ejmg.2014.09.002. Epub 2014 Sep 30. 2014 | |
| 2 | MRD30 |
| Refining analyses of copy number variation identifies specific genes associated with developmental delay. | |
| Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. | |
| Nat Genet 46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. 2014 | |
| 3 | MRD30, PURA |
| Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. | |
| Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study, Magee AC, Turnpenny PD, Baralle D. | |
| J Med Genet 51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23. 2014 | |