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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2016A splicing-regulatory polymorphism in DRD2 disrupts ZRANB2 binding, impairs cognitive functioning and increases risk for schizophrenia in six Han Chinese samplesCohen, O.; Weickert, T.; Hess, J.; Paish, L.; McCoy, S.; Rothmond, D.; Galletly, C.; Liu, D.; Weinberg, D.; Huang, X.; Xu, Q.; Shen, Y.; Zhang, D.; Yue, W.; Yan, J.; Wang, L.; Lu, T.; He, L.; Shi, Y.; Xu, M.; et al.
2016Point mutations in Exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variantLi, J.; Woods, S.; Healey, S.; Beesley, J.; Chen, X.; Lee, J.; Sivakumaran, H.; Wayte, N.; Nones, K.; Waterfall, J.; Pearson, J.; Patch, A.; Senz, J.; Ferreira, M.; Kaurah, P.; MacKenzie, R.; Heravi-Moussavi, A.; Hansford, S.; Lannagan, T.; Spurdle, A.; et al.
2016X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47,XXX in systemic lupus erythematosus and Sjögren's syndromeLiu, K.; Kurien, B.; Zimmerman, S.; Kaufman, K.; Taft, D.; Kottyan, L.; Lazaro, S.; Weaver, C.; Ice, J.; Adler, A.; Chodosh, J.; Radfar, L.; Rasmussen, A.; Stone, D.; Lewis, D.; Li, S.; Koelsch, K.; Igoe, A.; Talsania, M.; Kumar, J.; et al.
2016Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesLewinsohn, M.; Brown, A.L.; Weinel, L.M.; Phung, C.; Rafidi, G.; Lee, M.K.; Schreiber, A.W.; Feng, J.; Babic, M.; Chong, C.E.; Lee, Y.; Yong, A.; Suthers, G.K.; Poplawski, N.; Altree, M.; Phillips, K.; Jaensch, L.; Fine, M.; D'Andrea, R.J.; Lewis, I.D.; et al.
2016Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of goutRasheed, H.; Phipps-Green, A.J.; Topless, R.; Smith, M.D.; Hill, C.; Lester, S.; Rischmueller, M.; Janssen, M.; Jansen, T.L.; Joosten, L.A.; Radstake, T.R.; Riches, P.L.; Tausche, A.K.; Lioté, F.; So, A.; Van Rij, A.; Jones, G.T.; McCormick, S.P.; Harrison, A.A.; Stamp, L.K.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan 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.
2016Multiplex families with epilepsy: success of clinical and molecular genetic characterizationAfawi, Z.; Oliver, K.L.; Kivity, S.; Mazarib, A.; Blatt, I.; Neufeld, M.Y.; Helbig, K.L.; Goldberg-Stern, H.; Misk, A.J.; Straussberg, R.; Walid, S.; Mahajnah, M.; Lerman-Sagie, T.; Ben-Zeev, B.; Kahana, E.; Masalha, R.; Kramer, U.; Ekstein, D.; Shorer, Z.; Wallace, R.H.; et al.
2016The incidence, mortality and timing of Pneumocystis jiroveci pneumonia after hematopoietic cell transplantation: a CIBMTR analysisWilliams, K.; Ahn, K.; Chen, M.; Aljurf, M.; Agwu, A.; Chen, A.; Walsh, T.; Szabolcs, P.; Boeckh, M.; Auletta, J.; Lindemans, C.; Zanis-Neto, J.; Malvezzi, M.; Lister, J.; De Toledo Codina, J.; Sackey, K.; Chakrabarty, J.; Ljungman, P.; Wingard, J.; Seftel, M.; et al.
2016Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypesMachiela, M.; Lan, Q.; Slager, S.; Vermeulen, R.; Teras, L.; Camp, N.; Cerhan, J.; Spinelli, J.; Wang, S.; Nieters, A.; Vijai, J.; Yeager, M.; Wang, Z.; Ghesquières, H.; McKay, J.; Conde, L.; de Bakker, P.; Cox, D.; Burdett, L.; Monnereau, A.; et al.