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Dose response of th...
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
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Sonderby, Ida E. (author)
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Gustafsson, Omar (author)
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Doan, Nhat Trung (author)
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show more...
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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, Micael (author)
- Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)
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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. (author)
- Karolinska Institutet
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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- (author)
- Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)
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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- (author)
- Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI),Institutionen för integrativ medicinsk biologi (IMB)
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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, Ingrid (author)
- Karolinska Institutet
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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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(creator_code:org_t)
- 2018-10-03
- 2020
- English.
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In: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
- Related links:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://www.nature.c...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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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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show more...
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Ames, David
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Amunts, Katrin
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Andersson, Micae ...
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Armstrong, Nicol ...
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Bernard, Manon
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Blackburn, Nicho ...
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Blangero, John
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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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Ehrlich, Stefan
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Espeseth, Thomas
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Fisher, Simon E.
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Franke, Barbara
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Frouin, Vincent
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Fukunaga, Masaki
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Gareau, Thomas
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Glahn, David C.
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Grabe, Hans
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Groenewold, Nynk ...
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Haavik, Jan
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Haberg, Asta
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Hashimoto, Ryota
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Hehir-Kwa, Jayne ...
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Heinz, Andreas
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Hillegers, Manon ...
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Hoffmann, Per
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Holleran, Lauren ...
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Hottenga, Jouke- ...
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Hulshoff, Hillek ...
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Ikeda, Masashi
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Jahanshad, Neda
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Jernigan, Terry
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Jockwitz, Christ ...
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Johansson, Stefa ...
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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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Morris, Derek
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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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Richard, Genevie ...
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Rodriguez-Herrer ...
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Roiz-Santianez, ...
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Rokicki, Jarek
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Rucker, James
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Sachdev, Permind ...
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Sanders, Anne-Ma ...
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Sando, Sigrid B.
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Schmaal, Lianne
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Schofield, Peter ...
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Schork, Andrew J ...
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Schumann, Gunter
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Shin, Jean
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Shumskaya, Elena
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Sisodiya, Sanjay
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Steen, Vidar M.
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Stein, Dan J.
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Steinberg, Stacy
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Strike, Lachlan
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Teumer, Alexande ...
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Thalamuthu, Anbu
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Tordesillas-Guti ...
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Turner, Jessica
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Ueland, Torill
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Uhlmann, Anne
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Ulfarsson, Magnu ...
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van't Ent, Denni ...
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van der Meer, De ...
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van Haren, Neelt ...
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Vaskinn, Anja
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Vassos, Evangelo ...
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Walters, G. Brag ...
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Wang, Yunpeng
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Wen, Wei
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Whelan, Christop ...
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Wittfeld, Kathar ...
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Wright, Margie
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Yamamori, Hidena ...
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Zayats, Tetyana
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Agartz, Ingrid
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Westlye, Lars T.
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Jacquemont, Seba ...
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Djurovic, Srdjan
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Stefansson, Hrei ...
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Stefansson, Kari
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Thompson, Paul
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Andreassen, Ole ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Molecular Psychi ...
- By the university
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Umeå University
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Karolinska Institutet