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PreviewIssue DateTitleAuthor(s)
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; 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.
2023Heritable defects in telomere and mitotic function selectively predispose to sarcomasBallinger, M.L.; Pattnaik, S.; Mundra, P.A.; Zaheed, M.; Rath, E.; Priestley, P.; Baber, J.; Ray-Coquard, I.; Isambert, N.; Causeret, S.; van der Graaf, W.T.A.; Puri, A.; Duffaud, F.; Le Cesne, A.; Seddon, B.; Chandrasekar, C.; Schiffman, J.D.; Brohl, A.S.; James, P.A.; Kurtz, J.-E.; 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.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2007A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsyCavalleri, G.; Walley, N.; Soranzo, N.; Mulley, J.; Doherty, C.; Kapoor, A.; Depondt, C.; Lynch, J.; Scheffer, I.; Heils, A.; Gehrmann, A.; Kinirons, P.; Gandhi, S.; Satishchandra, P.; Wood, N.; Anand, A.; Sander, T.; Berkovic, S.; Delanty, N.; Goldstein, D.; et al.
2014Integrative genomics reveals novel molecular pathways and gene networks for coronary artery diseaseMäkinen, V.; Civelek, M.; Meng, Q.; Zhang, B.; Zhu, J.; Levian, C.; Huan, T.; Segrè, A.; Ghosh, S.; Vivar, J.; Nikpay, M.; Stewart, A.; Nelson, C.; Willenborg, C.; Erdmann, J.; Blakenberg, S.; O'Donnell, C.; März, W.; Laaksonen, R.; Epstein, S.; et al.; Attie, A.
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.