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Preview	Issue Date	Title	Author(s)
	2012	A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability	Huang, L.; Poke, G.; Gecz, J.; Gibson, K.
	2012	A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability	Huang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
	2012	BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down Syndrome patients	Tlili, A.; Hoischen, A.; Ripoll, C.; Benabou, E.; Badel, A.; Ronan, A.; Touraine, R.; Grattau, Y.; Stora, S.; Van Bon, B.; de Vries, B.; Menten, B.; Bockaert, N.; Gecz, J.; Antonarakis, S.; Campion, D.; Potier, M.; Blehaut, H.; Delabar, J.; Janel, N.
	2012	Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1	Barnett, C.; Mencel, J.; Gecz, J.; Kirwin, S.; Waters, W.; Vinette, K.; Uppill, M.; Nicholl, J.
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
	2012	Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay	Lynch, S.; Nguyen, L.; Ng, L.; Waldron, M.; McDonald, D.; Gecz, J.
	2012	Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?	Shoubridge, C.; Gardner, A.; Schwartz, C.; Hackett, A.; Field, M.; Gecz, J.
	2012	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability	Voineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D.
	2012	ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression	Shoubridge, C.; Tan, M.; Seiboth, G.; Gecz, J.
	2012	New mutations and sporadic intellectual disability	Gecz, J.; Haan, E.