1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
- Sønderby, I.E.
- van der Meer, D.
- Moreau, C.
- Kaufmann, T.
- Walters, G.B.
- Ellegaard, M.
- Abdellaoui, A.
- Ames, D.
- Amunts, K.
- Andersson, M.
- Armstrong, N.J.
- Bernard, M.
- Blackburn, N.B.
- Blangero, J.
- Boomsma, D.I.
- Brodaty, H.
- Brouwer, R.M.
- Bülow, R.
- Bøen, R.
- Cahn, W.
- Calhoun, V.D.
- Caspers, S.
- Ching, CRK
- Cichon, S.
- Ciufolini, S.
- Crespo-Facorro, B.
- Curran, J.E.
- Dale, A.M.
- Dalvie, S.
- Dazzan, P.
- de Geus, EJC
- de Zubicaray, G.I.
- de Zwarte, SMC
- Desrivieres, S.
- Doherty, J.L.
- Donohoe, G.
- Draganski, B.
- Ehrlich, S.
- Eising, E.
- Espeseth, T.
- Fejgin, K.
- Fisher, S.E.
- Fladby, T.
- Frei, O.
- Frouin, V.
- Fukunaga, M.
- Gareau, T.
- Ge, T.
- Glahn, D.C.
- Grabe, H.J.
- Groenewold, N.A.
- Gústafsson, Ó.
- Haavik, J.
- Haberg, A.K.
- Hall, J.
- Hashimoto, R.
- Hehir-Kwa, J.Y.
- Hibar, D.P.
- Hillegers, MHJ
- Hoffmann, P.
- Holleran, L.
- Holmes, A.J.
- Homuth, G.
- Hottenga, J.J.
- Hulshoff Pol, H.E.
- Ikeda, M.
- Jahanshad, N.
- Jockwitz, C.
- Johansson, S.
- Jönsson, E.G.
- Jørgensen, N.R.
- Kikuchi, M.
- Knowles, EEM
- Kumar, K.
- Le Hellard, S.
- Leu, C.
- Linden, DEJ
- Liu, J.
- Lundervold, A.
- Lundervold, A.J.
- Maillard, A.M.
- Martin, N.G.
- Martin-Brevet, S.
- Mather, K.A.
- Mathias, S.R.
- McMahon, K.L.
- McRae, A.F.
- Medland, S.E.
- Meyer-Lindenberg, A.
- Moberget, T.
- Modenato, C.
- Sánchez, J.M.
- Morris, D.W.
- Mühleisen, T.W.
- Murray, R.M.
- Nielsen, J.
- Nordvik, J.E.
- Nyberg, L.
- Loohuis, LMO
- Ophoff, R.A.
- Owen, M.J.
- Paus, T.
- Pausova, Z.
- Peralta, J.M.
- Pike, G.B.
- Prieto, C.
- Quinlan, E.B.
- Reinbold, C.S.
- Marques, T.R.
- Rucker, JJH
- Sachdev, P.S.
- Sando, S.B.
- Schofield, P.R.
- Schork, A.J.
- Schumann, G.
- Shin, J.
- Shumskaya, E.
- Silva, A.I.
- Sisodiya, S.M.
- Steen, V.M.
- Stein, D.J.
- Strike, L.T.
- Suzuki, I.K.
- Tamnes, C.K.
- Teumer, A.
- Thalamuthu, A.
- Tordesillas-Gutiérrez, D.
- Uhlmann, A.
- Ulfarsson, M.O.
- van 't Ent, D.
- van den Bree, MBM
- Vanderhaeghen, P.
- Vassos, E.
- Wen, W.
- Wittfeld, K.
- Wright, M.J.
- Agartz, I.
- Djurovic, S.
- Westlye, L.T.
- Stefansson, H.
- Stefansson, K.
- Jacquemont, S.
- Thompson, P.M.
- Andreassen, O.A.
DOIAbstract
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measur...
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