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PreviewIssue DateTitleAuthor(s)
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
2017Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; et al.
2019GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMIAlves, A.C.; De Silva, N.M.G.; Karhunen, V.; Sovio, U.; Das, S.; Rob Taal, H.; Warrington, N.M.; Lewin, A.M.; Kaakinen, M.; Cousminer, D.L.; Thiering, E.; Timpson, N.J.; Bond, T.A.; Lowry, E.; Brown, C.D.; Estivill, X.; Lindi, V.; Bradfield, J.P.; Geller, F.; Speed, D.; et al.
2023Protocol for a nested case-control study design for omics investigations in the Environmental Determinants of Islet Autoimmunity cohortOakey, H.; Giles, L.C.; Thomson, R.L.; LĂȘ Cao, K.-A.; Ashwood, P.; Brown, J.D.; Knight, E.J.; Barry, S.C.; Craig, M.E.; Colman, P.G.; Davis, E.A.; Hamilton-Williams, E.E.; Harrison, L.C.; Haynes, A.; Kim, K.W.; Mallitt, K.-A.; McGorm, K.; Morahan, G.; Rawlinson, W.D.; Sinnott, R.O.; et al.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
2010Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studiesElks, C.; Perry, J.; Sulem, P.; Chasman, D.; Franceschini, N.; He, C.; Lunetta, K.; Visser, J.; Byrne, E.; Cousminer, D.; Gudbjartsson, D.; Esko, T.; Feenstra, B.; Hottenga, J.; Koller, D.; Kutalik, Z.; Lin, P.; Mangino, M.; Marongiu, M.; McArdle, P.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; 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.