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Preview	Issue Date	Title	Author(s)
	2007	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor	Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
	2003	Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation	Kalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al.
	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.
	2018	A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency	Jansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
	2019	A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay	Mucha, B.E.; Banka, S.; Ajeawung, N.F.; Molidperee, S.; Chen, G.G.; Koenig, M.K.; Adejumo, R.B.; Till, M.; Harbord, M.; Perrier, R.; Lemyre, E.; Boucher, R.M.; Skotko, B.G.; Waxler, J.L.; Thomas, M.A.; Hodge, J.C.; Gecz, J.; Nicholl, J.; McGregor, L.; Linden, T.; et al.