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Preview	Issue Date	Title	Author(s)
	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.
	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.
	2004	Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein	Sarafidou, T.; Kahl, C.; Martinez-Garay, I.; Mangelsdorf, M.; Gesk, S.; Baker, E.; Kokkinaki, M.; Talley, P.; Maltby, E.; French, L.; Harder, L.; Hinzmann, B.; Nobile, C.; Richkind, K.; Finnis, M.; Deloukas, P.; Sutherland, G.; Kutsche, K.; Moschonas, N.; Siebert, R.; et al.
	1999	Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes	McDermott, M.; Aksentijevich, I.; Galon, J.; McDermott, E.; Ogunkolade, B.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Petterson, T.; McCarthy, J.; Frucht, D.; Aringer, M.; Torosyan, Y.; Teppo, A.M.; Wilson, M.; Karaarslan, H.; Wan, Y.; Todd, I.; Wood, G.; 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.
	1996	Positional cloning of the Fanconi anaemia group A gene	Apostolou, S.; Whitmore, S.; Crawford, J.; Lennon, G.; Sutherland, G.; Callen, D.; Ianzano, L.; Savino, M.; d'Apolito, M.; Notarangelo, A.; Memeo, E.; Piemontese, M.; Zelante, L.; Savoia, A.; Gibson, R.; Tipping, A.; Morgan, N.; Hassock, S.; Jansen, S.; de Ravel, T.; 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.
	2003	Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene	Davis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al.
	2004	The sequence and analysis of duplication-rich human chromosome 16	Martin, J.; Han, C.; Gordon, L.; Terry, A.; Prabhakar, S.; She, X.; Xie, G.; Hellsten, U.; Man, Y.; Altherr, M.; Couronne, O.; Aerts, A.; Bajorek, E.; Black, S.; Blumer, H.; Branscomb, E.; Brown, N.; Bruno, W.; Buckingham, J.; Callen, D.; et al.
	2009	Genome sequence, comparative analysis, and population genetics of the domestic horse	Wade, C.; Giulotto, E.; Sigurdsson, S.; Zoli, M.; Gnerre, S.; Imsland, F.; Lear, T.; Adelson, D.; Bailey, E.; Bellone, R.; Blocker, H.; Distl, O.; Edgar, R.; Garber, M.; Leeb, T.; Mauceli, E.; Macleod, J.; PENEDO, M.; Raison, J.; Sharpe, T.; et al.