| 1 | CDFE, CNTNAP2, PTHS3 |
| Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation. | |
| Falivelli G, De Jaco A, Favaloro FL, Kim H, Wilson J, Dubi N, Ellisman MH, Abrahams BS, Taylor P, Comoletti D. | |
| Hum Mol Genet 21(21):4761-73. doi: 10.1093/hmg/dds320. Epub 2012 Aug 7. 2012 | |
| 2 | CNTNAP2, NRXN1, PTHS2, PTHS3 |
| CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. | |
| Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. | |
| Am J Hum Genet 85(5):655-66. Epub 2009 Nov 5.PMID: 19896112 2009 | |