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Preview	Issue Date	Title	Author(s)
	2013	Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy	Braunlin, E.; Rosenfeld, H.; Kampmann, C.; Johnson, J.; Beck, M.; Giugliani, R.; Guffon, N.; Ketteridge, D.; Miranda, C.; Scarpa, M.; Schwartz, I.; Teles, E.; Wraith, J.; Barrios, P.; Dias da Silva, E.; Kurio, G.; Richardson, M.; Gildengorin, G.; Hopwood, J.; Imperiale, M.; et al.
	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.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2011	Chlamydia antibody testing and diagnosing tubal pathology in subfertile women: an individual patient data meta-analysis	Broeze, K.; Opmeer, B.; Coppus, S.; Van Geloven, N.; Alves, M.; Anestad, G.; Bhattacharya, S.; Allan, J.; Guerra-Infante, M.; Den Hartog, J.; Land, J.; Idahl, A.; van der Linden, P.; Mouton, J.; Ng, E.; van der Steeg, J.; Steures, P.; Svenstrup, H.; Tiitinen, A.; Toye, B.; et al.
	2010	An economic analysis of induction of labour and expectant monitoring in women with gestational hypertension or pre-eclampsia at term (HYPITAT trial)	Vijgen, S.; Koopmans, C.; Opmeer, B.; Groen, H.; Bijlenga, D.; Aarnoudse, J.; Bekedam, D.; van den Berg, P.; de Boer, K.; Burggraaff, J.; Bloemenkamp, K.; Drogtrop, A.; Franx, A.; de Groot, C.; Huisjes, A.; Kwee, A.; van Loon, A.; Lub, A.; Papatsonis, D.; van der Post, J.; et al.
	2013	Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome	Aoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; et al.
	2015	Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder	Kumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.; et al.
	2010	Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability	Whibley, A.; Plagnol, V.; Tarpey, P.; Abidi, F.; Fullston, T.; Choma, M.; Boucher, C.; Shepherd, L.; Willatt, L.; Parkin, G.; Smith, R.; Futreal, P.; Shaw, M.; Boyle, J.; Licata, A.; Skinner, C.; Stevenson, R.; Turner, G.; Field, M.; Hackett, A.; et al.
	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.