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Preview	Issue Date	Title	Author(s)
	2010	Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination	Pearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.
	2010	Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance	Tischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.
	2008	Genome analysis of the platypus reveals unique signatures of evolution	Warren, W.; Hillier, L.; Graves, J.; Birney, E.; Ponting, C.; Grutzner, F.; Belov, K.; Miller, W.; Clarke, L.; Chinwall, A.; Yang, S.; Heger, A.; Locke, D.; Miethke, P.; Waters, P.; Veyrunes, F.; Fulton, L.; Fulton, B.; Graves, T.; Wallis, J.; et al.
	2011	Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1	Burdon, K.; MacGregor, S.; Hewitt, A.; Sharma, S.; Chidlow, G.; Mills, R.; Danoy, P.; Casson, R.; Viswanathan, A.; Liu, J.; Landers, J.; Henders, A.; Wood, J.; Souzeau, E.; Crawford, A.; Leo, P.; Wang, J.; Rochtchina, E.; Nyholt, D.; Martin, N.; et al.
	2011	Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia	Hahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, J.; et al.
	2013	Mutations in DEPDC5 cause familial focal epilepsy with variable foci	Dibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
	2003	Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation	Burdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
	2002	Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome	Lower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
	2012	Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature	Kazenwadel, J.; Secker, G.; Liu, Y.; Rosenfeld, J.; Wildin, R.; Cuellar-Rodriguez, J.; Hsu, A.; Dyack, S.; Fernandez, C.; Chong, C.; Babic, M.; Bardy, P.; Shimamura, A.; Zhang, M.; Walsh, T.; Holland, S.; Hickstein, D.; Horwitz, M.; Hahn, C.; Scott, H.; et al.
	2012	Dual roles of PARP-1 promote cancer growth and progression	Schiewer, M.; Goodwin, J.; Han, S.; Brenner, J.; Augello, M.; Dean, J.; Liu, F.; Planck, J.; Ravindranathan, P.; Chinnaiyan, A.; McCue, P.; Gomella, L.; Raj, G.; Dicker, A.; Brody, J.; Pascal, J.; Centenera, M.; Butler, L.; Tilley, W.; Feng, F.; et al.