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Preview	Issue Date	Title	Author(s)
	2016	A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts	Ha, T.; Sadleir, L.; Mandelstam, S.; Paterson, S.; Scheffer, I.; Gecz, J.; Corbett, M.
	2016	Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism	Hughes, J.; Aubert, M.; Heatlie, J.; Gardner, A.; Gecz, J.; Morgan, T.; Belsky, J.; Thomas, P.
	2016	Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders	Moey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
	2016	Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome	Zhu, F.; Wang, F.; Yang, X.; Zhang, J.; Wu, H.; Zhang, Z.; Zhang, Z.; He, X.; Zhou, P.; Wei, Z.; Gecz, J.; Cao, Y.
	2016	De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies	Myers, C.; McMahon, J.; Schneider, A.; Petrovski, S.; Allen, A.; Carvill, G.; Zemel, M.; Saykally, J.; LaCroix, A.; Heinzen, E.; Hollingsworth, G.; Nikanorova, M.; Corbett, M.; Gecz, J.; Coman, D.; Freeman, J.; Calvert, S.; Gill, D.; Carney, P.; Lerman-Sagie, T.; et al.
	2016	Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?	Rigbye, K.; van Hasselt, P.; Burgess, R.; Damiano, J.; Mullen, S.; Petrovski, S.; Puranam, R.; van Gassen, K.; Gecz, J.; Scheffer, I.; McNamara, J.; Berkovic, S.; Hildebrand, M.
	2016	Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2	Henden, L.; Freytag, S.; Afawi, Z.; Baldassari, S.; Berkovic, S.; Bisulli, F.; Canafoglia, L.; Casari, G.; Crompton, D.; Depienne, C.; Gecz, J.; Guerrini, R.; Helbig, I.; Hirsch, E.; Keren, B.; Klein, K.; Labauge, P.; LeGuern, E.; Licchetta, L.; Mei, D.; et al.
	2016	Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum	Smogavec, M.; Cleall, A.; Hoyer, J.; Lederer, D.; Nassogne, M.; Palmer, E.; Deprez, M.; Benoit, V.; Maystadt, I.; Noakes, C.; Leal, A.; Shaw, M.; Gecz, J.; Raymond, L.; Reis, A.; Shears, D.; Brockmann, K.; Zweier, C.
	2016	Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice	Pederick, D.; Homan, C.; Jaehne, E.; Piltz, S.; Haines, B.; Baune, B.; Jolly, L.; Hughes, J.; Gecz, J.; Thomas, P.
	2016	Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene	Mattiske, T.; Lee, K.; Gecz, J.; Friocourt, G.; Shoubridge, C.