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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.
2016Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsyRicos, M.G.; Hodgson, B.L.; Pippucci, T.; Saidin, A.; Ong, Y.S.; Heron, S.E.; Licchetta, L.; Bisulli, F.; Bayly, M.A.; Hughes, J.; Baldassari, S.; Palombo, F.; Epilepsy Electroclinical Study Group,; Santucci, M.; Meletti, S.; Berkovic, S.F.; Rubboli, G.; Thomas, P.Q.; Scheffer, I.E.; Tinuper, P.; et al.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, 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.
2016Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid TumorsTorchia, J.; Golbourn, B.; Feng, S.; Ho, K.C.; Sin-Chan, P.; Vasiljevic, A.; Norman, J.D.; Guilhamon, P.; Garzia, L.; Agamez, N.R.; Lu, M.; Chan, T.S.; Picard, D.; de Antonellis, P.; Khuong-Quang, D.-A.; Planello, A.C.; Zeller, C.; Barsyte-Lovejoy, D.; Lafay-Cousin, L.; Letourneau, L.; et al.
2016Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulationGingras, M.; Chang, D.; Donehower, L.; Covington, K.; Gill, A.; Ittmann, M.; Creighton, C.; Johns, A.; Shinbrot, E.; Dewal, N.; Fisher, W.; Pilarsky, C.; Grützmann, R.; Overman, M.; Jamieson, N.; Van Buren, G.; Drummond, J.; Walker, K.; Hampton, O.; Xi, L.; 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.
2016Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemiaIrving, J.; Enshaei, A.; Parker, C.; Sutton, R.; Kuiper, R.; Erhorn, A.; Minto, L.; Venn, N.; Law, T.; Yu, J.; Schwab, C.; Davies, R.; Matheson, E.; Davies, A.; Sonneveld, E.; Den Boer, M.; Love, S.; Harrison, C.; Hoogerbrugge, P.; Revesz, T.; et al.
2016The genomic landscape of core-binding factor acute myeloid leukemiasFaber, Z.; Chen, X.; Gedman, A.; Boggs, K.; Cheng, J.; Ma, J.; Radtke, I.; Chao, J.; Walsh, M.; Song, G.; Andersson, A.; Dang, J.; Dong, L.; Liu, Y.; Huether, R.; Cai, Z.; Mulder, H.; Wu, G.; Edmonson, M.; Rusch, M.; et al.
2016Antiretroviral resistance at virological failure in the NEAT 001/ANRS 143 trial: raltegravir plus darunavir/ritonavir or tenofovir/emtricitabine plus darunavir/ritonavir as first-line ARTLambert-Niclot, S.; George, E.; Pozniak, A.; White, E.; Schwimmer, C.; Jessen, H.; Johnson, M.; Dunn, D.; Perno, C.; Clotet, B.; Plettenberg, A.; Blaxhult, A.; Palmisano, L.; Wittkop, L.; Calvez, V.; Marcelin, A.; Raffi, F.; Dedes, N.; Chěne, G.; Allavena, C.; et al.