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Preview	Issue Date	Title	Author(s)
	2010	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly	Giannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
	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.
	1997	Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever	Aksentijevich, I.; Centola, M.; Deng, Z.; Sood, R.; Balow, J.; Wood, G.; Zaks, N.; Mansfield, E.; Chen, X.; Eisenberg, S.; Vedula, A.; Shafran, N.; Raben, N.; Pras, E.; Pras, M.; Kastner, D.; Blake, T.; Baxevanis, A.; Robbins, C.; Krizman, D.; 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.
	2018	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder	Frints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.
	2017	A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactation	Oakes, S.R.; Gallego-Ortega, D.; Stanford, P.M.; Junankar, S.; Au, W.W.Y.; Kikhtyak, Z.; von Korff, A.; Sergio, C.M.; Law, A.M.K.; Castillo, L.E.; Allerdice, S.L.; Young, A.I.J.; Piggin, C.; Whittle, B.; Bertram, E.; Naylor, M.J.; Roden, D.L.; Donovan, J.; Korennykh, A.; Goodnow, C.C.; et al.; Wells, C.A.