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PreviewIssue DateTitleAuthor(s)
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
2017A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformationsPalmer, E.E.; Kumar, R.; Gordon, C.T.; Shaw, M.; Hubert, L.; Carroll, R.; Rio, M.; Murray, L.; Leffler, M.; Dudding-Byth, T.; Oufadem, M.; Lalani, S.R.; Lewis, A.M.; Xia, F.; Tam, A.; Webster, R.; Brammah, S.; Filippini, F.; Pollard, J.; Spies, J.; et al.
2016A method to exploit the structure of genetic ancestry space to enhance case-control studiesBodea, C.A.; Neale, B.M.; Ripke, S.; Barclay, M.; Peyrin-Biroulet, L.; Chamaillard, M.; Colombel, J.F.; Cottone, M.; Croft, A.; D'Incà, R.; Halfvarson, J.; Hanigan, K.; Henderson, P.; Hugot, J.P.; Karban, A.; Kennedy, N.A.; Khan, M.A.; Lémann, M.; Levine, A.; Massey, D.; et al.
2017Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxietyMoir, L.; Bochukova, E.G.; Dumbell, R.; Banks, G.; Bains, R.S.; Nolan, P.M.; Scudamore, C.; Simon, M.; Watson, K.A.; Keogh, J.; Henning, E.; Hendricks, A.; O'Rahilly, S.; Barroso, I.; Sullivan, A.E.; Bersten, D.C.; Whitelaw, M.L.; Kirsch, S.; Bentley, E.; Farooqi, I.S.; et al.
2015A meta-analysis of gene expression signatures of blood pressure and hypertensionHuan, T.; Esko, T.; Peters, M.; Pilling, L.; Schramm, K.; Schurmann, C.; Chen, B.; Liu, C.; Joehanes, R.; Johnson, A.; Yao, C.; Ying, S.; Courchesne, P.; Milani, L.; Raghavachari, N.; Wang, R.; Liu, P.; Reinmaa, E.; Dehghan, A.; Hofman, A.; et al.; McCarthy, M.
2014Regulation of the hepatitis C virus RNA replicase by endogenous lipid peroxidationYamane, D.; McGivern, D.; Wauthier, E.; Yi, M.; Madden, V.; Welsch, C.; Antes, I.; Wen, Y.; Chugh, P.; McGee, C.; Widmann, D.; Misumi, I.; Bandyopadhyay, S.; Kim, S.; Shimakami, T.; Oikawa, T.; Whitmire, J.; Heise, M.; Dittmer, D.; Kao, C.; et al.
1997Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the Familial Mediterranean Fever Locus (MEFV) on chromosome 16p13.3Sood, R.; Blake, T.; Aksentijevich, I.; Wood, G.; Chen, X.; Gardner, D.; Shelton, D.; Mangelsdorf, M.; Orsborn, A.; Pras, E.; Balow, J.; Centola, M.; Deng, Z.; Zaks, N.; Chen, X.; Richards, N.; Fischel-Ghodsian, N.; Rotter, J.; Pras, M.; Shohat, M.; et al.
2014Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetesSandholm, N.; Forsblom, C.; Mäkinen, V.; McKnight, A.; Österholm, A.; He, B.; Harjutsalo, V.; Lithovius, R.; Gordin, D.; Parkkonen, M.; Saraheimo, M.; Thorn, L.; Tolonen, N.; Wadén, J.; Tuomilehto, J.; Lajer, M.; Ahlqvist, E.; Möllsten, A.; Marcovecchio, M.; Cooper, J.; et al.
2016Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniquesTenorio, J.; Romanelli, V.; Martin-Trujillo, A.; Fernández, G.M.; Segovia, M.; Perandones, C.; Pérez Jurado, L.A.; Esteller, M.; Fraga, M.; Arias, P.; Gordo, G.; Dapía, I.; Mena, R.; Palomares, M.; Pérez de Nanclares, G.; Nevado, J.; García-Miñaur, S.; Santos-Simarro, F.; Martinez-Glez, V.; Vallespín, E.; et al.; Hennekam, R.C.M.; Biesecker, L.G.
2017The case for adopting the "species complex" nomenclature for the etiologic agents of cryptococcosisKwon-Chung, K.; Bennett, J.; Wickes, B.; Meyer, W.; Cuomo, C.; Wollenburg, K.; Bicanic, T.; Castaneda, E.; Chang, Y.; Chen, J.; Cogliati, M.; Dromer, F.; Ellis, D.; Filler, S.; Fisher, M.; Harrison, T.; Holland, S.; Kohno, S.; Kronstad, J.; Lazera, M.; et al.; Lorenz, M.