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Issue Date
Title
Author(s)
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, 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.
2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, 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.
2023
Heritable defects in telomere and mitotic function selectively predispose to sarcomas
Ballinger, 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.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, 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.
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, 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.
2007
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy
Cavalleri, 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.
2014
Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease
Mäkinen, 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.
2016
A method to exploit the structure of genetic ancestry space to enhance case-control studies
Bodea, 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.
Discover
Author
2
de Vries, B.
2
Mulley, J.
2
Shaw, M.
1
Alberti, A.
1
Anand, A.
1
Anderlid, B.
1
Attie, A.
1
Baber, J.
1
Ballinger, M.L.
1
Barclay, M.
.
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Subject
7
Humans
4
Animals
3
Case-Control Studies
3
Exome
3
Female
3
Male
3
Mice
2
Adolescent
2
Adult
2
Amino Acid Sequence
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Date issued
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2020 - 2023
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2010 - 2019
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2002 - 2009