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Preview	Issue Date	Title	Author(s)
	2016	HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study	Friez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
	2000	Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome	Villard, L.; Fontes, M.; Ades, L.; Gecz, J.
	1997	Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)	Bunge, S.; Ince, H.; Steglich, C.; Kleijer, W.; Beck, M.; Zaremba, J.; van Diggelen, O.; Weber, B.; Hopwood, J.; Gal, A.
	2015	Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity	Brookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
	2013	A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome	Buchovecky, C.; Turley, S.; Brown, H.; Kyle, S.; McDonald, J.; Liu, B.; Pieper, A.; Huang, W.; Katz, D.; Russell, D.; Shendure, J.; Justice, M.
	2005	Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)	Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.
	2002	Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation	Turner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
	2001	Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications	Yogalingam, G.; Hopwood, J.
	2012	KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy	Weckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
	2006	Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment	Stadler, S.; Polanetz, R.; Maier, E.; Heidenreich, S.; Niederer, B.; Mayerhofer, P.; Lagler, F.; Koch, H.; Santer, R.; Fletcher, J.; Ranieri, E.; Das, A.; Spiekerkotter, U.; Schwab, K.; Potzsch, S.; Marquardt, I.; Hennermann, J.; Knerr, I.; Mercimek-Mahmutoglu, S.; Kohlschmidt, N.; et al.