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PreviewIssue DateTitleAuthor(s)
2017Docosahexaenoic acid and bronchopulmonary dysplasia in preterm infantsCollins, C.; Makrides, M.; McPhee, A.; Sullivan, T.; Davis, P.; Thio, M.; Simmer, K.; Rajadurai, V.; Travadi, J.; Berry, M.; Liley, H.; Opie, G.; Tan, K.; Lui, K.; Morris, S.; Stack, J.; Stark, M.; Chua, M.; Jayagobi, P.; Holberton, J.; et al.
2015Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsKumar, R.; Corbett, M.; Van Bon, B.; Gardner, A.; Woenig, J.; Jolly, L.; Douglas, E.; Friend, K.; Tan, C.; Van Esch, H.; Holvoet, M.; Raynaud, M.; Field, M.; Leffler, M.; Budny, B.; Wisniewska, M.; Badura-Stronka, M.; Latos-Bieleńska, A.; Batanian, J.; Rosenfeld, J.; et al.
2015Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signalingSnijders 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.
2015Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disabilityGrozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al.
2015THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disabilityKumar, R.; Corbett, M.; Van Bon, B.; Woenig, J.; Weir, L.; Douglas, E.; Friend, K.; Gardner, A.; Shaw, M.; Jolly, L.; Tan, C.; Hunter, M.; Hackett, A.; Field, M.; Palmer, E.; Leffler, M.; Rogers, C.; Boyle, J.; Bienek, M.; Jensen, C.; et al.
2015A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypeTerhal, P.; Nievelstein, R.; Verver, E.; Topsakal, V.; van Dommelen, P.; Hoornaert, K.; Le Merrer, M.; Zankl, A.; Simon, M.; Smithson, S.; Marcelis, C.; Kerr, B.; Clayton-Smith, J.; Kinning, E.; Mansour, S.; Elmslie, F.; Goodwin, L.; van der Hout, A.; Veenstra-Knol, H.; Herkert, J.; et al.
2015The association between aggressive and non-aggressive antisocial problems as measured with the Achenbach System of Empirically Based Assessment: a study of 27,861 parent-adolescent dyads from 25 societiesBurt, S.A.; Rescorla, L.A.; Achenbach, T.M.; Ivanova, M.Y.; Almqvist, F.; Begovac, I.; Bilenberg, N.; Bird, H.; Chahed, M.; Dobrean, A.; Döpfner, M.; Erol, N.; Hannesdottir, H.; Kanbayashi, Y.; Lambert, M.C.; Leung, P.W.L.; Minaei, A.; Novik, T.S.; Oh, K.J.; Petot, D.; et al.
2018The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registryGirschick, H.; Finetti, M.; Orlando, F.; Schalm, S.; Insalaco, A.; Ganser, G.; Nielsen, S.; Herlin, T.; Koné-Paut, I.; Martino, S.; Cattalini, M.; Anton, J.; Al-Mayouf, S.; Hofer, M.; Quartier, P.; Boros, C.; Kuemmerle-Deschner, J.; Pires Marafon, D.; Alessio, M.; Schwarz, T.; et al.
2006Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessmentStadler, 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.
2015High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlationRojnueangnit, 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.