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Dose response of th...
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Sonderby, Ida E.
(author)
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
- Article/chapterEnglish2020
Publisher, publication year, extent ...
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2018-10-03
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Nature Publishing Group,2020
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-169456
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169456URI
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https://doi.org/10.1038/s41380-018-0118-1DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:143184587URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Correction: Sønderby, I.E., Gústafsson, Ó., Doan, N.T. et al. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry 25, 692–695 (2020). https://doi.org/10.1038/s41380-019-0358-8
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Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.
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Gustafsson, Omar
(author)
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Doan, Nhat Trung
(author)
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Hibar, Derrek P.
(author)
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Martin-Brevet, Sandra
(author)
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Abdellaoui, Abdel
(author)
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Ames, David
(author)
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Amunts, Katrin
(author)
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Andersson, MicaelUmeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)(Swepub:umu)mian0001
(author)
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Armstrong, Nicola J.
(author)
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Bernard, Manon
(author)
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Blackburn, Nicholas
(author)
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Blangero, John
(author)
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Boomsma, Dorret, I
(author)
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Bralten, Janita
(author)
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Brattbak, Hans-Richard
(author)
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Brodaty, Henry
(author)
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Brouwer, Rachel M.
(author)
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Buelow, Robin
(author)
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Calhoun, Vince
(author)
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Caspers, Svenja
(author)
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Cavalleri, Gianpiero
(author)
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Chen, Chi-Hua
(author)
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Cichon, Sven
(author)
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Ciufolini, Simone
(author)
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Corvin, Aiden
(author)
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Crespo-Facorro, Benedicto
(author)
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Curran, Joanne E.
(author)
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Dale, Anders M.
(author)
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Dalvie, Shareefa
(author)
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Dazzan, Paola
(author)
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de Geus, Eco J. C.Karolinska Institutet
(author)
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de Zubicaray, Greig, I
(author)
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de Zwarte, Sonja M. C.
(author)
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Delanty, Norman
(author)
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den Braber, Anouk
(author)
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Desrivieres, Sylvane
(author)
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Donohoe, Gary
(author)
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Draganski, Bogdan
(author)
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Ehrlich, Stefan
(author)
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Espeseth, Thomas
(author)
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Fisher, Simon E.
(author)
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Franke, Barbara
(author)
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Frouin, Vincent
(author)
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Fukunaga, Masaki
(author)
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Gareau, Thomas
(author)
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Glahn, David C.
(author)
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Grabe, Hans
(author)
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Groenewold, Nynke A.
(author)
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Haavik, Jan
(author)
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Haberg, Asta
(author)
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Hashimoto, Ryota
(author)
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Hehir-Kwa, Jayne Y.
(author)
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Heinz, Andreas
(author)
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Hillegers, Manon H. J.
(author)
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Hoffmann, Per
(author)
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Holleran, Laurena
(author)
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Hottenga, Jouke-Jan
(author)
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Hulshoff, Hilleke E.
(author)
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Ikeda, Masashi
(author)
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Jahanshad, Neda
(author)
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Jernigan, Terry
(author)
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Jockwitz, Christiane
(author)
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Johansson, Stefan
(author)
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Jonsdottir, Gudrun A.
(author)
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Joensson, Erik G.
(author)
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Kahn, Rene
(author)
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Kaufmann, Tobias
(author)
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Kelly, Sinead
(author)
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Kikuchi, Masataka
(author)
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Knowles, Emma E. M.
(author)
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Kolskar, Knut K.
(author)
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Kwok, John B.
(author)
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Le Hellard, Stephanie
(author)
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Leu, Costin
(author)
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Liu, Jingyu
(author)
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Lundervold, Astri J.
(author)
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Lundervold, Arvid
(author)
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Martin, Nicholas G.
(author)
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Mather, Karen
(author)
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Mathias, Samuel R.
(author)
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McCormack, Mark
(author)
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McMahon, Katie L.
(author)
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McRae, Allan
(author)
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Milaneschi, Yuri
(author)
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Moreau, Clara
(author)
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Morris, Derek
(author)
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Mothersill, David
(author)
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Muehleisen, Thomas W.
(author)
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Murray, Robin
(author)
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Nordvik, Jan E.
(author)
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Nyberg, Lars,1966-Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)(Swepub:umu)lany0001
(author)
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Loohuis, Loes M. Olde
(author)
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Ophoff, Roel
(author)
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Paus, Tomas
(author)
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Pausova, Zdenka
(author)
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Penninx, Brenda
(author)
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Peralta, Juan M.
(author)
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Pike, Bruce
(author)
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Prieto, Carlos
(author)
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Pudas, Sara,Fil. Dr.1983-Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI),Institutionen för integrativ medicinsk biologi (IMB)(Swepub:umu)saatus02
(author)
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Quinlan, Erin
(author)
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Quintana, Daniel S.
(author)
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Reinbold, Celine S.
(author)
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Marques, Tiago Reis
(author)
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Reymond, Alexandre
(author)
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Richard, Genevieve
(author)
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Rodriguez-Herreros, Borja
(author)
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Roiz-Santianez, Roberto
(author)
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Rokicki, Jarek
(author)
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Rucker, James
(author)
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Sachdev, Perminder
(author)
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Sanders, Anne-Marthe
(author)
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Sando, Sigrid B.
(author)
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Schmaal, Lianne
(author)
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Schofield, Peter R.
(author)
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Schork, Andrew J.
(author)
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Schumann, Gunter
(author)
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Shin, Jean
(author)
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Shumskaya, Elena
(author)
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Sisodiya, Sanjay
(author)
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Steen, Vidar M.
(author)
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Stein, Dan J.
(author)
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Steinberg, Stacy
(author)
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Strike, Lachlan
(author)
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Teumer, Alexander
(author)
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Thalamuthu, Anbu
(author)
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Tordesillas-Gutierrez, Diana
(author)
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Turner, Jessica
(author)
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Ueland, Torill
(author)
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Uhlmann, Anne
(author)
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Ulfarsson, Magnus O.
(author)
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van't Ent, Dennis
(author)
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van der Meer, Dennis
(author)
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van Haren, Neeltje E. M.
(author)
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Vaskinn, Anja
(author)
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Vassos, Evangelos
(author)
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Walters, G. Bragi
(author)
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Wang, Yunpeng
(author)
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Wen, Wei
(author)
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Whelan, Christopher D.
(author)
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Wittfeld, Katharina
(author)
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Wright, Margie
(author)
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Yamamori, Hidenaga
(author)
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Zayats, Tetyana
(author)
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Agartz, IngridKarolinska Institutet
(author)
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Westlye, Lars T.
(author)
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Jacquemont, Sebastien
(author)
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Djurovic, Srdjan
(author)
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Stefansson, Hreinn
(author)
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Stefansson, Kari
(author)
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Thompson, Paul
(author)
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Andreassen, Ole A.
(author)
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Umeå universitetUmeå centrum för funktionell hjärnavbildning (UFBI)
(creator_code:org_t)
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In:Molecular Psychiatry: Nature Publishing Group25:3, s. 584-6021359-41841476-5578
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Sonderby, Ida E.
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Gustafsson, Omar
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Doan, Nhat Trung
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Hibar, Derrek P.
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Martin-Brevet, S ...
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Abdellaoui, Abde ...
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Ames, David
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Boomsma, Dorret, ...
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Bralten, Janita
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Brattbak, Hans-R ...
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Brodaty, Henry
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Brouwer, Rachel ...
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Buelow, Robin
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Calhoun, Vince
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Caspers, Svenja
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Cavalleri, Gianp ...
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Chen, Chi-Hua
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Cichon, Sven
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Ciufolini, Simon ...
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Corvin, Aiden
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Crespo-Facorro, ...
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Curran, Joanne E ...
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Dale, Anders M.
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Dalvie, Shareefa
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Dazzan, Paola
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de Geus, Eco J. ...
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de Zubicaray, Gr ...
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de Zwarte, Sonja ...
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Delanty, Norman
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den Braber, Anou ...
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Desrivieres, Syl ...
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Donohoe, Gary
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Draganski, Bogda ...
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Espeseth, Thomas
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Gareau, Thomas
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Glahn, David C.
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Ikeda, Masashi
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Jahanshad, Neda
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Jernigan, Terry
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Jonsdottir, Gudr ...
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Joensson, Erik G ...
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Kahn, Rene
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Kaufmann, Tobias
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Kelly, Sinead
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Kikuchi, Masatak ...
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Knowles, Emma E. ...
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Kolskar, Knut K.
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Kwok, John B.
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Le Hellard, Step ...
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Leu, Costin
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Liu, Jingyu
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Lundervold, Astr ...
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Lundervold, Arvi ...
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Martin, Nicholas ...
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Mather, Karen
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Mathias, Samuel ...
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McCormack, Mark
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McMahon, Katie L ...
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McRae, Allan
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Milaneschi, Yuri
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Moreau, Clara
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Mothersill, Davi ...
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Muehleisen, Thom ...
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Murray, Robin
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Nordvik, Jan E.
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Nyberg, Lars, 19 ...
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Loohuis, Loes M. ...
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Ophoff, Roel
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Paus, Tomas
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Pausova, Zdenka
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Penninx, Brenda
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Peralta, Juan M.
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Pike, Bruce
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Prieto, Carlos
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Pudas, Sara, Fil ...
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Quinlan, Erin
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Quintana, Daniel ...
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Reinbold, Celine ...
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Marques, Tiago R ...
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Reymond, Alexand ...
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Schork, Andrew J ...
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Steinberg, Stacy
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Teumer, Alexande ...
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Thalamuthu, Anbu
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Turner, Jessica
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Uhlmann, Anne
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Ulfarsson, Magnu ...
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