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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.
	2015	Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling	Snijders Blok, L.; Madsen, E.; Juusola, J.; Gilissen, C.; Baralle, D.; Reijnders, M.; Venselaar, H.; Helsmoortel, C.; Cho, M.; Hoischen, A.; Vissers, L.; Koemans, T.; Wissink-Lindhout, W.; Eichler, E.; Romano, C.; Van Esch, H.; Stumpel, C.; Vreeburg, M.; Smeets, E.; Oberndorff, K.; et al.
	2015	High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation	Rojnueangnit, K.; Xie, J.; Gomes, A.; Sharp, A.; Callens, T.; Chen, Y.; Liu, Y.; Cochran, M.; Abbott, M.; Atkin, J.; Babovic-Vuksanovic, D.; Barnett, C.; Crenshaw, M.; Bartholomew, D.; Basel, L.; Bellus, G.; Ben-Shachar, S.; Bialer, M.; Bick, D.; Blumberg, B.; et al.
	2012	Identification of cases with adverse neonatal outcome monitored by cardiotocography versus ST analysis: secondary analysis of a randomized trial	Westerhuis, M.; Porath, M.; Becker, J.; Van den Akker, E.; van Beek, E.; van Dessel, H.; Drogtrop, A.; van Geijn, H.; Graziosi, G.; Groenendaal, F.; van Lith, J.; Mol, B.; Moons, K.; Nijhuis, J.; Oei, S.; Oosterbaan, H.; Rijnders, R.; Schuitemaker, N.; Wijnberger, L.; Willekes, C.; et al.
	2014	Refining analyses of copy number variation identifies specific genes associated with developmental delay	Coe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
	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.
	2011	Fetal blood sampling in addition to intrapartum ST-analysis of the fetal electrocardiogram: evaluation of the recommendations in the Dutch STAN® trial	Becker, J.; Westerhuis, M.; Sterrenburg, K.; Van den Akker, E.; van Beek, E.; Bolte, A.; Van Dessel, T.; Drogtrop, A.; van Geijn, H.; Graziosi, G.; van Lith, J.; Mol, B.; Moons, K.; Nijhuis, J.; Oei, S.; Oosterbaan, H.; Porath, M.; Rijnders, R.; Schuitemaker, N.; Wijnberger, L.; et al.
	2010	LPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhood	Michot, C.; Hubert, L.; Brivet, M.; De Meirleir, L.; Valayannopoulos, V.; Muller-Felber, W.; Venkateswaran, R.; Ogier, H.; Desguerre, I.; Altuzarra, C.; Thompson, E.; Smitka, M.; Huebner, A.; Husson, M.; Horvath, R.; Chinnery, P.; Vaz, F.; Munnich, A.; Elpeleg, O.; Delahodde, A.; 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.
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.; Oudakker, A.; Kjaergaard, S.; Vianna-Morgante, A.; Kleefstra, T.; Ruiter, M.; Jehee, F.; Ullmann, R.; Schwartz, C.; Stratton, M.; Raymond, F.; Veltman, J.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.; Hehir-Kwa, J.; Froyen, G.; et al.