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PreviewIssue DateTitleAuthor(s)
2015A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMSRosmarin, D.; Palles, C.; Pagnamenta, A.; Kaur, K.; Pita, G.; Martin, M.; Domingo, E.; Jones, A.; Howarth, K.; Freeman-Mills, L.; Johnstone, E.; Wang, H.; Love, S.; Scudder, C.; Julier, P.; Fernández-Rozadilla, C.; Ruiz-Ponte, C.; Carracedo, A.; Castellvi-Bel, S.; Castells, A.; et al.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-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.
2015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMuona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; 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.
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.
2015Maternal allopurinol administration during suspected fetal hypoxia: a novel neuroprotective intervention? A multicentre randomised placebo controlled trialKaandorp, J.; Benders, M.; Schuit, E.; Rademaker, C.; Oudijk, M.; Porath, M.; Oetomo, S.; Wouters, M.; van Elburg, R.; Franssen, M.; Bos, A.; de Haan, T.; Boon, J.; de Boer, I.; Rijnders, R.; Jacobs, C.; Scheepers, L.; Gavilanes, D.; Bloemenkamp, K.; Rijken, M.; 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.
2015Risk stratification with cervical length and fetal fibronectin in women with threatened preterm labor before 34 weeks and not delivering within 7 daysHermans, F.; Bruijn, M.; Vis, J.; Wilms, F.; Oudijk, M.; Porath, M.; Scheepers, H.; Bloemenkamp, K.; Bax, C.; Cornette, J.; Nij Bijvanck, B.; Franssen, M.; Vandenbussche, F.; Kok, M.; Grobman, W.; Van Der Post, J.; Bossuyt, P.; Opmeer, B.; Mol, B.; Schuit, E.; 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.