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Preview	Issue Date	Title	Author(s)
	1997	A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome	Muenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
	2018	Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysis	Albers, L.; Sobotzki, C.; Kuß, O.; Ajslev, T.; Batista, R.; Bettiol, H.; Brabin, B.; Buka, S.; Cardoso, V.; Clifton, V.; Devereux, G.; Gilman, S.; Grzeskowiak, L.; Heinrich, J.; Hummel, S.; Jacobsen, G.; Jones, G.; Koshy, G.; Morgen, C.; Oken, E.; et al.
	2015	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis	Ramos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
	2021	Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: a national cohort study	Wurzel, D.; McMinn, A.; Hoq, M.; Blyth, C.C.; Burgner, D.; Tosif, S.; Buttery, J.; Carr, J.; Clark, J.E.; Cheng, A.C.; Dinsmore, N.; Francis, J.R.; Kynaston, A.; Lucas, R.; Marshall, H.; McMullan, B.; Singh-Grewal, D.; Wood, N.; Macartney, K.; Britton, P.N.; 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.
	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.
	2007	Testing the 8-syndrome structure of the child behavior checklist in 30 societies	Ivanova, M.; Achenbach, T.; Dumenci, L.; Rescorla, L.; Almqvist, F.; Weintraub, S.; Bilenberg, N.; Bird, H.; Chen, W.; Dobrean, A.; Dopfner, M.; Erol, N.; Fombonne, E.; Fonseca, A.; Frigerio, A.; Grietens, H.; Hannesdottir, H.; Kanbayashi, Y.; Lambert, M.; Larsson, B.; et al.
	2007	The generalizability of the Youth Self-Report syndrome structure in 23 societies	Ivanova, M.; Achenbach, T.; Dumenci, L.; Bilenberg, N.; Broberg, A.; Dopfner, M.; Forns, M.; Kanbayashi, Y.; Leung, P.; Mulatu, M.; Oh, K.; Sawyer, M.; Steinhausen, H.; Metzke, C.; Zilber, N.; Verhulst, F.; Rescorla, L.; Almqvist, F.; Bird, H.; Dobrean, A.; et al.