| 1 | BCORL1, IDBDD |
| Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities | |
| Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ. | |
| Am J Med Genet A. May;179(5):870-874. doi: 10.1002/ajmg.a.61118. Epub 2019 Apr 2 2019 | |
| 2 | BCORL1, CRTRD, DDHD2, IDBDD, MCM3AP, PNRIID, PTPRT, SLC6A8, SPG54, SYNE1, ZNF528 |
| Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. | |
| Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP. | |
| J Med Genet. Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. 2013 | |