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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
Author(s) -
Dennis van der Meer,
Ida E. Sønderby,
Tobias Kaufmann,
G. Bragi Walters,
Abdel Abdellaoui,
David Ames,
Katrin Amunts,
Micael Andersson,
Nicola J. Armstrong,
Ma Bernard,
Nicholas B. Blackburn,
John Blangero,
Dorret I. Boomsma,
Henry Brodaty,
Rachel M. Brouwer,
Robin Bülow,
Wiepke Cahn,
Vince D. Calhoun,
Svenja Caspers,
Gianpiero L. Cavalleri,
Christopher R. K. Ching,
Sven Cichon,
Simone Ciufolini,
Aiden Corvin,
Benedicto CrespoFacorro,
Joanne E. Curran,
Shareefa Dalvie,
Paola Dazzan,
Eco J. C. de Geus,
Greig I. de Zubicaray,
Sonja M. C. de Zwarte,
Norman Delanty,
Anouk den Braber,
Sylvane Desrivières,
Marta Di Forti,
Joanne Doherty,
Gary Donohoe,
Stefan Ehrlich,
Else Eising,
Thomas Espeseth,
Simon E. Fisher,
Tormod Fladby,
Oleksandr Frei,
Vincent Frouin,
Masaki Fukunaga,
Thomas Gareau,
David C. Glahn,
Hans J. Grabe,
Nynke A. Groenewold,
Ómar Gústafsson,
Jan Haavik,
Asta K. Håberg,
Ryota Hashimoto,
Jayne Y. HehirKwa,
Derrek P. Hibar,
Ma H. J. Hillegers,
Per Hoffmann,
Laurena Holleran,
JoukeJan Hottenga,
Hilleke E. Hulshoff Pol,
Masashi Ikeda,
Sébastien Jacquemont,
Neda Jahanshad,
Christiane Jockwitz,
Stefan Johansson,
Erik G. Jönsson,
Masataka Kikuchi,
Emma E. M. Knowles,
John B. Kwok,
Stéphanie Le Hellard,
David E.J. Linden,
Jingyu Liu,
Arvid Lundervold,
Astri J. Lundervold,
Nicholas G. Martin,
Karen A. Mather,
Samuel R. Mathias,
Katie L. McMahon,
Allan F. McRae,
Sarah E. Medland,
Torgeir Moberget,
Clara Moreau,
Derek W. Morris,
Thomas W. Mühleisen,
Robin M. Murray,
Jan Egil Nordvik,
Lars Nyberg,
Loes M. Olde Loohuis,
Roel A. Ophoff,
Michael J. Owen,
Tomáš Paus,
Zdenka Pausová,
Juan M. Peralta,
G. Bruce Pike,
Carlos Alberto Vanegas Prieto,
Erin Burke Quinlan,
Céline S. Reinbold,
Tiago Reis Marques,
James Rucker,
Perminder S. Sachdev,
Sigrid Botne Sando,
Peter R. Schofield,
Andrew J. Schork,
Günter Schumann,
Jean Shin,
Elena Shumskaya,
Ana Isabel Silva,
Sanjay M. Sisodiya,
Vidar M. Steen,
Dan J. Stein,
Lachlan T. Strike,
Christian K. Tamnes,
Alexander Teumer,
Anbupalam Thalamuthu,
Diana TordesillasGutiérrez,
Anne Uhlmann,
Magnús Ö. Úlfarsson,
Dennis van ’t Ent,
Marianne B. M. van den Bree,
Evangelos Vassos,
Wei Wen,
Katharina Wittfeld,
Margaret J. Wright,
Tetyana Zayats,
Anders M. Dale,
Srdjan Djurovic,
Ingrid Agartz,
Lars T. Westlye,
Hreinn Stefánsson,
Kári Stéfansson,
Paul M. Thompson,
Ole A. Andreassen
Publication year - 2019
Publication title -
jama psychiatry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.531
H-Index - 365
eISSN - 2168-6238
pISSN - 2168-622X
DOI - 10.1001/jamapsychiatry.2019.3779
Subject(s) - copy number variation , cohort , neuroimaging , cognition , population , brain size , effects of sleep deprivation on cognitive performance , brain morphometry , gene duplication , psychology , magnetic resonance imaging , genetics , medicine , neuroscience , biology , gene , environmental health , radiology , genome
Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities.

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