1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Abstract 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...
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2021 |
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In: Translational Psychiatry - Nature Publishing Group, 2012, 11(2021), 1, Seite 16 |
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volume:11 ; year:2021 ; number:1 ; pages:16 |
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DOI / URN: |
10.1038/s41398-021-01213-0 |
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DOAJ006945325 |
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520 | |a Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. | ||
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10.1038/s41398-021-01213-0 doi (DE-627)DOAJ006945325 (DE-599)DOAJd73de80b364645c5b361b86e0292b8a5 DE-627 ger DE-627 rakwb eng RC321-571 Ida E. Sønderby verfasserin aut 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. Neurosciences. Biological psychiatry. Neuropsychiatry Dennis van der Meer verfasserin aut Clara Moreau verfasserin aut Tobias Kaufmann verfasserin aut G. Bragi Walters verfasserin aut Maria Ellegaard verfasserin aut Abdel Abdellaoui verfasserin aut David Ames verfasserin aut Katrin Amunts verfasserin aut Micael Andersson verfasserin aut Nicola J. Armstrong verfasserin aut Manon Bernard verfasserin aut Nicholas B. Blackburn verfasserin aut John Blangero verfasserin aut Dorret I. Boomsma verfasserin aut Henry Brodaty verfasserin aut Rachel M. Brouwer verfasserin aut Robin Bülow verfasserin aut Rune Bøen verfasserin aut Wiepke Cahn verfasserin aut Vince D. Calhoun verfasserin aut Svenja Caspers verfasserin aut Christopher R. K. Ching verfasserin aut Sven Cichon verfasserin aut Simone Ciufolini verfasserin aut Benedicto Crespo-Facorro verfasserin aut Joanne E. Curran verfasserin aut Anders M. Dale verfasserin aut Shareefa Dalvie verfasserin aut Paola Dazzan verfasserin aut Eco J. C. de Geus verfasserin aut Greig I. de Zubicaray verfasserin aut Sonja M. C. de Zwarte verfasserin aut Sylvane Desrivieres verfasserin aut Joanne L. Doherty verfasserin aut Gary Donohoe verfasserin aut Bogdan Draganski verfasserin aut Stefan Ehrlich verfasserin aut Else Eising verfasserin aut Thomas Espeseth verfasserin aut Kim Fejgin verfasserin aut Simon E. Fisher verfasserin aut Tormod Fladby verfasserin aut Oleksandr Frei verfasserin aut Vincent Frouin verfasserin aut Masaki Fukunaga verfasserin aut Thomas Gareau verfasserin aut Tian Ge verfasserin aut David C. Glahn verfasserin aut Hans J. Grabe verfasserin aut Nynke A. Groenewold verfasserin aut Ómar Gústafsson verfasserin aut Jan Haavik verfasserin aut Asta K. Haberg verfasserin aut Jeremy Hall verfasserin aut Ryota Hashimoto verfasserin aut Jayne Y. Hehir-Kwa verfasserin aut Derrek P. Hibar verfasserin aut Manon H. J. Hillegers verfasserin aut Per Hoffmann verfasserin aut Laurena Holleran verfasserin aut Avram J. Holmes verfasserin aut Georg Homuth verfasserin aut Jouke-Jan Hottenga verfasserin aut Hilleke E. Hulshoff Pol verfasserin aut Masashi Ikeda verfasserin aut Neda Jahanshad verfasserin aut Christiane Jockwitz verfasserin aut Stefan Johansson verfasserin aut Erik G. Jönsson verfasserin aut Niklas R. Jørgensen verfasserin aut Masataka Kikuchi verfasserin aut Emma E. M. Knowles verfasserin aut Kuldeep Kumar verfasserin aut Stephanie Le Hellard verfasserin aut Costin Leu verfasserin aut David E. J. Linden verfasserin aut Jingyu Liu verfasserin aut Arvid Lundervold verfasserin aut Astri Johansen Lundervold verfasserin aut Anne M. Maillard verfasserin aut Nicholas G. Martin verfasserin aut Sandra Martin-Brevet verfasserin aut Karen A. Mather verfasserin aut Samuel R. Mathias verfasserin aut Katie L. McMahon verfasserin aut Allan F. McRae verfasserin aut Sarah E. Medland verfasserin aut Andreas Meyer-Lindenberg verfasserin aut Torgeir Moberget verfasserin aut Claudia Modenato verfasserin aut Jennifer Monereo Sánchez verfasserin aut Derek W. Morris verfasserin aut Thomas W. Mühleisen verfasserin aut Robin M. Murray verfasserin aut Jacob Nielsen verfasserin aut Jan E. Nordvik verfasserin aut Lars Nyberg verfasserin aut Loes M. Olde Loohuis verfasserin aut Roel A. Ophoff verfasserin aut Michael J. Owen verfasserin aut Tomas Paus verfasserin aut Zdenka Pausova verfasserin aut Juan M. Peralta verfasserin aut G. Bruce Pike verfasserin aut Carlos Prieto verfasserin aut Erin B. Quinlan verfasserin aut Céline S. Reinbold verfasserin aut Tiago Reis Marques verfasserin aut James J. H. Rucker verfasserin aut Perminder S. Sachdev verfasserin aut Sigrid B. Sando verfasserin aut Peter R. Schofield verfasserin aut Andrew J. Schork verfasserin aut Gunter Schumann verfasserin aut Jean Shin verfasserin aut Elena Shumskaya verfasserin aut Ana I. Silva verfasserin aut Sanjay M. Sisodiya verfasserin aut Vidar M. Steen verfasserin aut Dan J. Stein verfasserin aut Lachlan T. Strike verfasserin aut Ikuo K. Suzuki verfasserin aut Christian K. Tamnes verfasserin aut Alexander Teumer verfasserin aut Anbupalam Thalamuthu verfasserin aut Diana Tordesillas-Gutiérrez verfasserin aut Anne Uhlmann verfasserin aut Magnus O. Ulfarsson verfasserin aut Dennis van ‘t Ent verfasserin aut Marianne B. M. van den Bree verfasserin aut Pierre Vanderhaeghen verfasserin aut Evangelos Vassos verfasserin aut Wei Wen verfasserin aut Katharina Wittfeld verfasserin aut Margaret J. Wright verfasserin aut Ingrid Agartz verfasserin aut Srdjan Djurovic verfasserin aut Lars T. Westlye verfasserin aut Hreinn Stefansson verfasserin aut Kari Stefansson verfasserin aut Sébastien Jacquemont verfasserin aut Paul M. Thompson verfasserin aut Ole A. Andreassen verfasserin aut for the ENIGMA-CNV working group verfasserin aut In Translational Psychiatry Nature Publishing Group, 2012 11(2021), 1, Seite 16 (DE-627)660807378 (DE-600)2609311-X 21583188 nnns volume:11 year:2021 number:1 pages:16 https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/article/d73de80b364645c5b361b86e0292b8a5 kostenfrei https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/toc/2158-3188 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2021 1 16 |
spelling |
10.1038/s41398-021-01213-0 doi (DE-627)DOAJ006945325 (DE-599)DOAJd73de80b364645c5b361b86e0292b8a5 DE-627 ger DE-627 rakwb eng RC321-571 Ida E. Sønderby verfasserin aut 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. Neurosciences. Biological psychiatry. Neuropsychiatry Dennis van der Meer verfasserin aut Clara Moreau verfasserin aut Tobias Kaufmann verfasserin aut G. Bragi Walters verfasserin aut Maria Ellegaard verfasserin aut Abdel Abdellaoui verfasserin aut David Ames verfasserin aut Katrin Amunts verfasserin aut Micael Andersson verfasserin aut Nicola J. Armstrong verfasserin aut Manon Bernard verfasserin aut Nicholas B. Blackburn verfasserin aut John Blangero verfasserin aut Dorret I. Boomsma verfasserin aut Henry Brodaty verfasserin aut Rachel M. Brouwer verfasserin aut Robin Bülow verfasserin aut Rune Bøen verfasserin aut Wiepke Cahn verfasserin aut Vince D. Calhoun verfasserin aut Svenja Caspers verfasserin aut Christopher R. K. Ching verfasserin aut Sven Cichon verfasserin aut Simone Ciufolini verfasserin aut Benedicto Crespo-Facorro verfasserin aut Joanne E. Curran verfasserin aut Anders M. Dale verfasserin aut Shareefa Dalvie verfasserin aut Paola Dazzan verfasserin aut Eco J. C. de Geus verfasserin aut Greig I. de Zubicaray verfasserin aut Sonja M. C. de Zwarte verfasserin aut Sylvane Desrivieres verfasserin aut Joanne L. Doherty verfasserin aut Gary Donohoe verfasserin aut Bogdan Draganski verfasserin aut Stefan Ehrlich verfasserin aut Else Eising verfasserin aut Thomas Espeseth verfasserin aut Kim Fejgin verfasserin aut Simon E. Fisher verfasserin aut Tormod Fladby verfasserin aut Oleksandr Frei verfasserin aut Vincent Frouin verfasserin aut Masaki Fukunaga verfasserin aut Thomas Gareau verfasserin aut Tian Ge verfasserin aut David C. Glahn verfasserin aut Hans J. Grabe verfasserin aut Nynke A. Groenewold verfasserin aut Ómar Gústafsson verfasserin aut Jan Haavik verfasserin aut Asta K. Haberg verfasserin aut Jeremy Hall verfasserin aut Ryota Hashimoto verfasserin aut Jayne Y. Hehir-Kwa verfasserin aut Derrek P. Hibar verfasserin aut Manon H. J. Hillegers verfasserin aut Per Hoffmann verfasserin aut Laurena Holleran verfasserin aut Avram J. Holmes verfasserin aut Georg Homuth verfasserin aut Jouke-Jan Hottenga verfasserin aut Hilleke E. Hulshoff Pol verfasserin aut Masashi Ikeda verfasserin aut Neda Jahanshad verfasserin aut Christiane Jockwitz verfasserin aut Stefan Johansson verfasserin aut Erik G. Jönsson verfasserin aut Niklas R. Jørgensen verfasserin aut Masataka Kikuchi verfasserin aut Emma E. M. Knowles verfasserin aut Kuldeep Kumar verfasserin aut Stephanie Le Hellard verfasserin aut Costin Leu verfasserin aut David E. J. Linden verfasserin aut Jingyu Liu verfasserin aut Arvid Lundervold verfasserin aut Astri Johansen Lundervold verfasserin aut Anne M. Maillard verfasserin aut Nicholas G. Martin verfasserin aut Sandra Martin-Brevet verfasserin aut Karen A. Mather verfasserin aut Samuel R. Mathias verfasserin aut Katie L. McMahon verfasserin aut Allan F. McRae verfasserin aut Sarah E. Medland verfasserin aut Andreas Meyer-Lindenberg verfasserin aut Torgeir Moberget verfasserin aut Claudia Modenato verfasserin aut Jennifer Monereo Sánchez verfasserin aut Derek W. Morris verfasserin aut Thomas W. Mühleisen verfasserin aut Robin M. Murray verfasserin aut Jacob Nielsen verfasserin aut Jan E. Nordvik verfasserin aut Lars Nyberg verfasserin aut Loes M. Olde Loohuis verfasserin aut Roel A. Ophoff verfasserin aut Michael J. Owen verfasserin aut Tomas Paus verfasserin aut Zdenka Pausova verfasserin aut Juan M. Peralta verfasserin aut G. Bruce Pike verfasserin aut Carlos Prieto verfasserin aut Erin B. Quinlan verfasserin aut Céline S. Reinbold verfasserin aut Tiago Reis Marques verfasserin aut James J. H. Rucker verfasserin aut Perminder S. Sachdev verfasserin aut Sigrid B. Sando verfasserin aut Peter R. Schofield verfasserin aut Andrew J. Schork verfasserin aut Gunter Schumann verfasserin aut Jean Shin verfasserin aut Elena Shumskaya verfasserin aut Ana I. Silva verfasserin aut Sanjay M. Sisodiya verfasserin aut Vidar M. Steen verfasserin aut Dan J. Stein verfasserin aut Lachlan T. Strike verfasserin aut Ikuo K. Suzuki verfasserin aut Christian K. Tamnes verfasserin aut Alexander Teumer verfasserin aut Anbupalam Thalamuthu verfasserin aut Diana Tordesillas-Gutiérrez verfasserin aut Anne Uhlmann verfasserin aut Magnus O. Ulfarsson verfasserin aut Dennis van ‘t Ent verfasserin aut Marianne B. M. van den Bree verfasserin aut Pierre Vanderhaeghen verfasserin aut Evangelos Vassos verfasserin aut Wei Wen verfasserin aut Katharina Wittfeld verfasserin aut Margaret J. Wright verfasserin aut Ingrid Agartz verfasserin aut Srdjan Djurovic verfasserin aut Lars T. Westlye verfasserin aut Hreinn Stefansson verfasserin aut Kari Stefansson verfasserin aut Sébastien Jacquemont verfasserin aut Paul M. Thompson verfasserin aut Ole A. Andreassen verfasserin aut for the ENIGMA-CNV working group verfasserin aut In Translational Psychiatry Nature Publishing Group, 2012 11(2021), 1, Seite 16 (DE-627)660807378 (DE-600)2609311-X 21583188 nnns volume:11 year:2021 number:1 pages:16 https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/article/d73de80b364645c5b361b86e0292b8a5 kostenfrei https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/toc/2158-3188 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2021 1 16 |
allfields_unstemmed |
10.1038/s41398-021-01213-0 doi (DE-627)DOAJ006945325 (DE-599)DOAJd73de80b364645c5b361b86e0292b8a5 DE-627 ger DE-627 rakwb eng RC321-571 Ida E. Sønderby verfasserin aut 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. Neurosciences. Biological psychiatry. Neuropsychiatry Dennis van der Meer verfasserin aut Clara Moreau verfasserin aut Tobias Kaufmann verfasserin aut G. Bragi Walters verfasserin aut Maria Ellegaard verfasserin aut Abdel Abdellaoui verfasserin aut David Ames verfasserin aut Katrin Amunts verfasserin aut Micael Andersson verfasserin aut Nicola J. Armstrong verfasserin aut Manon Bernard verfasserin aut Nicholas B. Blackburn verfasserin aut John Blangero verfasserin aut Dorret I. Boomsma verfasserin aut Henry Brodaty verfasserin aut Rachel M. Brouwer verfasserin aut Robin Bülow verfasserin aut Rune Bøen verfasserin aut Wiepke Cahn verfasserin aut Vince D. Calhoun verfasserin aut Svenja Caspers verfasserin aut Christopher R. K. Ching verfasserin aut Sven Cichon verfasserin aut Simone Ciufolini verfasserin aut Benedicto Crespo-Facorro verfasserin aut Joanne E. Curran verfasserin aut Anders M. Dale verfasserin aut Shareefa Dalvie verfasserin aut Paola Dazzan verfasserin aut Eco J. C. de Geus verfasserin aut Greig I. de Zubicaray verfasserin aut Sonja M. C. de Zwarte verfasserin aut Sylvane Desrivieres verfasserin aut Joanne L. Doherty verfasserin aut Gary Donohoe verfasserin aut Bogdan Draganski verfasserin aut Stefan Ehrlich verfasserin aut Else Eising verfasserin aut Thomas Espeseth verfasserin aut Kim Fejgin verfasserin aut Simon E. Fisher verfasserin aut Tormod Fladby verfasserin aut Oleksandr Frei verfasserin aut Vincent Frouin verfasserin aut Masaki Fukunaga verfasserin aut Thomas Gareau verfasserin aut Tian Ge verfasserin aut David C. Glahn verfasserin aut Hans J. Grabe verfasserin aut Nynke A. Groenewold verfasserin aut Ómar Gústafsson verfasserin aut Jan Haavik verfasserin aut Asta K. Haberg verfasserin aut Jeremy Hall verfasserin aut Ryota Hashimoto verfasserin aut Jayne Y. Hehir-Kwa verfasserin aut Derrek P. Hibar verfasserin aut Manon H. J. Hillegers verfasserin aut Per Hoffmann verfasserin aut Laurena Holleran verfasserin aut Avram J. Holmes verfasserin aut Georg Homuth verfasserin aut Jouke-Jan Hottenga verfasserin aut Hilleke E. Hulshoff Pol verfasserin aut Masashi Ikeda verfasserin aut Neda Jahanshad verfasserin aut Christiane Jockwitz verfasserin aut Stefan Johansson verfasserin aut Erik G. Jönsson verfasserin aut Niklas R. Jørgensen verfasserin aut Masataka Kikuchi verfasserin aut Emma E. M. Knowles verfasserin aut Kuldeep Kumar verfasserin aut Stephanie Le Hellard verfasserin aut Costin Leu verfasserin aut David E. J. Linden verfasserin aut Jingyu Liu verfasserin aut Arvid Lundervold verfasserin aut Astri Johansen Lundervold verfasserin aut Anne M. Maillard verfasserin aut Nicholas G. Martin verfasserin aut Sandra Martin-Brevet verfasserin aut Karen A. Mather verfasserin aut Samuel R. Mathias verfasserin aut Katie L. McMahon verfasserin aut Allan F. McRae verfasserin aut Sarah E. Medland verfasserin aut Andreas Meyer-Lindenberg verfasserin aut Torgeir Moberget verfasserin aut Claudia Modenato verfasserin aut Jennifer Monereo Sánchez verfasserin aut Derek W. Morris verfasserin aut Thomas W. Mühleisen verfasserin aut Robin M. Murray verfasserin aut Jacob Nielsen verfasserin aut Jan E. Nordvik verfasserin aut Lars Nyberg verfasserin aut Loes M. Olde Loohuis verfasserin aut Roel A. Ophoff verfasserin aut Michael J. Owen verfasserin aut Tomas Paus verfasserin aut Zdenka Pausova verfasserin aut Juan M. Peralta verfasserin aut G. Bruce Pike verfasserin aut Carlos Prieto verfasserin aut Erin B. Quinlan verfasserin aut Céline S. Reinbold verfasserin aut Tiago Reis Marques verfasserin aut James J. H. Rucker verfasserin aut Perminder S. Sachdev verfasserin aut Sigrid B. Sando verfasserin aut Peter R. Schofield verfasserin aut Andrew J. Schork verfasserin aut Gunter Schumann verfasserin aut Jean Shin verfasserin aut Elena Shumskaya verfasserin aut Ana I. Silva verfasserin aut Sanjay M. Sisodiya verfasserin aut Vidar M. Steen verfasserin aut Dan J. Stein verfasserin aut Lachlan T. Strike verfasserin aut Ikuo K. Suzuki verfasserin aut Christian K. Tamnes verfasserin aut Alexander Teumer verfasserin aut Anbupalam Thalamuthu verfasserin aut Diana Tordesillas-Gutiérrez verfasserin aut Anne Uhlmann verfasserin aut Magnus O. Ulfarsson verfasserin aut Dennis van ‘t Ent verfasserin aut Marianne B. M. van den Bree verfasserin aut Pierre Vanderhaeghen verfasserin aut Evangelos Vassos verfasserin aut Wei Wen verfasserin aut Katharina Wittfeld verfasserin aut Margaret J. Wright verfasserin aut Ingrid Agartz verfasserin aut Srdjan Djurovic verfasserin aut Lars T. Westlye verfasserin aut Hreinn Stefansson verfasserin aut Kari Stefansson verfasserin aut Sébastien Jacquemont verfasserin aut Paul M. Thompson verfasserin aut Ole A. Andreassen verfasserin aut for the ENIGMA-CNV working group verfasserin aut In Translational Psychiatry Nature Publishing Group, 2012 11(2021), 1, Seite 16 (DE-627)660807378 (DE-600)2609311-X 21583188 nnns volume:11 year:2021 number:1 pages:16 https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/article/d73de80b364645c5b361b86e0292b8a5 kostenfrei https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/toc/2158-3188 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2021 1 16 |
allfieldsGer |
10.1038/s41398-021-01213-0 doi (DE-627)DOAJ006945325 (DE-599)DOAJd73de80b364645c5b361b86e0292b8a5 DE-627 ger DE-627 rakwb eng RC321-571 Ida E. Sønderby verfasserin aut 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. Neurosciences. Biological psychiatry. Neuropsychiatry Dennis van der Meer verfasserin aut Clara Moreau verfasserin aut Tobias Kaufmann verfasserin aut G. Bragi Walters verfasserin aut Maria Ellegaard verfasserin aut Abdel Abdellaoui verfasserin aut David Ames verfasserin aut Katrin Amunts verfasserin aut Micael Andersson verfasserin aut Nicola J. Armstrong verfasserin aut Manon Bernard verfasserin aut Nicholas B. Blackburn verfasserin aut John Blangero verfasserin aut Dorret I. Boomsma verfasserin aut Henry Brodaty verfasserin aut Rachel M. Brouwer verfasserin aut Robin Bülow verfasserin aut Rune Bøen verfasserin aut Wiepke Cahn verfasserin aut Vince D. Calhoun verfasserin aut Svenja Caspers verfasserin aut Christopher R. K. Ching verfasserin aut Sven Cichon verfasserin aut Simone Ciufolini verfasserin aut Benedicto Crespo-Facorro verfasserin aut Joanne E. Curran verfasserin aut Anders M. Dale verfasserin aut Shareefa Dalvie verfasserin aut Paola Dazzan verfasserin aut Eco J. C. de Geus verfasserin aut Greig I. de Zubicaray verfasserin aut Sonja M. C. de Zwarte verfasserin aut Sylvane Desrivieres verfasserin aut Joanne L. Doherty verfasserin aut Gary Donohoe verfasserin aut Bogdan Draganski verfasserin aut Stefan Ehrlich verfasserin aut Else Eising verfasserin aut Thomas Espeseth verfasserin aut Kim Fejgin verfasserin aut Simon E. Fisher verfasserin aut Tormod Fladby verfasserin aut Oleksandr Frei verfasserin aut Vincent Frouin verfasserin aut Masaki Fukunaga verfasserin aut Thomas Gareau verfasserin aut Tian Ge verfasserin aut David C. Glahn verfasserin aut Hans J. Grabe verfasserin aut Nynke A. Groenewold verfasserin aut Ómar Gústafsson verfasserin aut Jan Haavik verfasserin aut Asta K. Haberg verfasserin aut Jeremy Hall verfasserin aut Ryota Hashimoto verfasserin aut Jayne Y. Hehir-Kwa verfasserin aut Derrek P. Hibar verfasserin aut Manon H. J. Hillegers verfasserin aut Per Hoffmann verfasserin aut Laurena Holleran verfasserin aut Avram J. Holmes verfasserin aut Georg Homuth verfasserin aut Jouke-Jan Hottenga verfasserin aut Hilleke E. Hulshoff Pol verfasserin aut Masashi Ikeda verfasserin aut Neda Jahanshad verfasserin aut Christiane Jockwitz verfasserin aut Stefan Johansson verfasserin aut Erik G. Jönsson verfasserin aut Niklas R. Jørgensen verfasserin aut Masataka Kikuchi verfasserin aut Emma E. M. Knowles verfasserin aut Kuldeep Kumar verfasserin aut Stephanie Le Hellard verfasserin aut Costin Leu verfasserin aut David E. J. Linden verfasserin aut Jingyu Liu verfasserin aut Arvid Lundervold verfasserin aut Astri Johansen Lundervold verfasserin aut Anne M. Maillard verfasserin aut Nicholas G. Martin verfasserin aut Sandra Martin-Brevet verfasserin aut Karen A. Mather verfasserin aut Samuel R. Mathias verfasserin aut Katie L. McMahon verfasserin aut Allan F. McRae verfasserin aut Sarah E. Medland verfasserin aut Andreas Meyer-Lindenberg verfasserin aut Torgeir Moberget verfasserin aut Claudia Modenato verfasserin aut Jennifer Monereo Sánchez verfasserin aut Derek W. Morris verfasserin aut Thomas W. Mühleisen verfasserin aut Robin M. Murray verfasserin aut Jacob Nielsen verfasserin aut Jan E. Nordvik verfasserin aut Lars Nyberg verfasserin aut Loes M. Olde Loohuis verfasserin aut Roel A. Ophoff verfasserin aut Michael J. Owen verfasserin aut Tomas Paus verfasserin aut Zdenka Pausova verfasserin aut Juan M. Peralta verfasserin aut G. Bruce Pike verfasserin aut Carlos Prieto verfasserin aut Erin B. Quinlan verfasserin aut Céline S. Reinbold verfasserin aut Tiago Reis Marques verfasserin aut James J. H. Rucker verfasserin aut Perminder S. Sachdev verfasserin aut Sigrid B. Sando verfasserin aut Peter R. Schofield verfasserin aut Andrew J. Schork verfasserin aut Gunter Schumann verfasserin aut Jean Shin verfasserin aut Elena Shumskaya verfasserin aut Ana I. Silva verfasserin aut Sanjay M. Sisodiya verfasserin aut Vidar M. Steen verfasserin aut Dan J. Stein verfasserin aut Lachlan T. Strike verfasserin aut Ikuo K. Suzuki verfasserin aut Christian K. Tamnes verfasserin aut Alexander Teumer verfasserin aut Anbupalam Thalamuthu verfasserin aut Diana Tordesillas-Gutiérrez verfasserin aut Anne Uhlmann verfasserin aut Magnus O. Ulfarsson verfasserin aut Dennis van ‘t Ent verfasserin aut Marianne B. M. van den Bree verfasserin aut Pierre Vanderhaeghen verfasserin aut Evangelos Vassos verfasserin aut Wei Wen verfasserin aut Katharina Wittfeld verfasserin aut Margaret J. Wright verfasserin aut Ingrid Agartz verfasserin aut Srdjan Djurovic verfasserin aut Lars T. Westlye verfasserin aut Hreinn Stefansson verfasserin aut Kari Stefansson verfasserin aut Sébastien Jacquemont verfasserin aut Paul M. Thompson verfasserin aut Ole A. 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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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. Neurosciences. Biological psychiatry. Neuropsychiatry Dennis van der Meer verfasserin aut Clara Moreau verfasserin aut Tobias Kaufmann verfasserin aut G. Bragi Walters verfasserin aut Maria Ellegaard verfasserin aut Abdel Abdellaoui verfasserin aut David Ames verfasserin aut Katrin Amunts verfasserin aut Micael Andersson verfasserin aut Nicola J. Armstrong verfasserin aut Manon Bernard verfasserin aut Nicholas B. Blackburn verfasserin aut John Blangero verfasserin aut Dorret I. Boomsma verfasserin aut Henry Brodaty verfasserin aut Rachel M. Brouwer verfasserin aut Robin Bülow verfasserin aut Rune Bøen verfasserin aut Wiepke Cahn verfasserin aut Vince D. Calhoun verfasserin aut Svenja Caspers verfasserin aut Christopher R. K. Ching verfasserin aut Sven Cichon verfasserin aut Simone Ciufolini verfasserin aut Benedicto Crespo-Facorro verfasserin aut Joanne E. Curran verfasserin aut Anders M. Dale verfasserin aut Shareefa Dalvie verfasserin aut Paola Dazzan verfasserin aut Eco J. C. de Geus verfasserin aut Greig I. de Zubicaray verfasserin aut Sonja M. C. de Zwarte verfasserin aut Sylvane Desrivieres verfasserin aut Joanne L. Doherty verfasserin aut Gary Donohoe verfasserin aut Bogdan Draganski verfasserin aut Stefan Ehrlich verfasserin aut Else Eising verfasserin aut Thomas Espeseth verfasserin aut Kim Fejgin verfasserin aut Simon E. Fisher verfasserin aut Tormod Fladby verfasserin aut Oleksandr Frei verfasserin aut Vincent Frouin verfasserin aut Masaki Fukunaga verfasserin aut Thomas Gareau verfasserin aut Tian Ge verfasserin aut David C. Glahn verfasserin aut Hans J. Grabe verfasserin aut Nynke A. Groenewold verfasserin aut Ómar Gústafsson verfasserin aut Jan Haavik verfasserin aut Asta K. Haberg verfasserin aut Jeremy Hall verfasserin aut Ryota Hashimoto verfasserin aut Jayne Y. Hehir-Kwa verfasserin aut Derrek P. Hibar verfasserin aut Manon H. J. Hillegers verfasserin aut Per Hoffmann verfasserin aut Laurena Holleran verfasserin aut Avram J. Holmes verfasserin aut Georg Homuth verfasserin aut Jouke-Jan Hottenga verfasserin aut Hilleke E. Hulshoff Pol verfasserin aut Masashi Ikeda verfasserin aut Neda Jahanshad verfasserin aut Christiane Jockwitz verfasserin aut Stefan Johansson verfasserin aut Erik G. Jönsson verfasserin aut Niklas R. Jørgensen verfasserin aut Masataka Kikuchi verfasserin aut Emma E. M. Knowles verfasserin aut Kuldeep Kumar verfasserin aut Stephanie Le Hellard verfasserin aut Costin Leu verfasserin aut David E. J. Linden verfasserin aut Jingyu Liu verfasserin aut Arvid Lundervold verfasserin aut Astri Johansen Lundervold verfasserin aut Anne M. Maillard verfasserin aut Nicholas G. Martin verfasserin aut Sandra Martin-Brevet verfasserin aut Karen A. Mather verfasserin aut Samuel R. Mathias verfasserin aut Katie L. McMahon verfasserin aut Allan F. McRae verfasserin aut Sarah E. Medland verfasserin aut Andreas Meyer-Lindenberg verfasserin aut Torgeir Moberget verfasserin aut Claudia Modenato verfasserin aut Jennifer Monereo Sánchez verfasserin aut Derek W. Morris verfasserin aut Thomas W. Mühleisen verfasserin aut Robin M. Murray verfasserin aut Jacob Nielsen verfasserin aut Jan E. Nordvik verfasserin aut Lars Nyberg verfasserin aut Loes M. Olde Loohuis verfasserin aut Roel A. Ophoff verfasserin aut Michael J. Owen verfasserin aut Tomas Paus verfasserin aut Zdenka Pausova verfasserin aut Juan M. Peralta verfasserin aut G. Bruce Pike verfasserin aut Carlos Prieto verfasserin aut Erin B. Quinlan verfasserin aut Céline S. Reinbold verfasserin aut Tiago Reis Marques verfasserin aut James J. H. Rucker verfasserin aut Perminder S. Sachdev verfasserin aut Sigrid B. Sando verfasserin aut Peter R. Schofield verfasserin aut Andrew J. Schork verfasserin aut Gunter Schumann verfasserin aut Jean Shin verfasserin aut Elena Shumskaya verfasserin aut Ana I. Silva verfasserin aut Sanjay M. Sisodiya verfasserin aut Vidar M. Steen verfasserin aut Dan J. Stein verfasserin aut Lachlan T. Strike verfasserin aut Ikuo K. Suzuki verfasserin aut Christian K. Tamnes verfasserin aut Alexander Teumer verfasserin aut Anbupalam Thalamuthu verfasserin aut Diana Tordesillas-Gutiérrez verfasserin aut Anne Uhlmann verfasserin aut Magnus O. Ulfarsson verfasserin aut Dennis van ‘t Ent verfasserin aut Marianne B. M. van den Bree verfasserin aut Pierre Vanderhaeghen verfasserin aut Evangelos Vassos verfasserin aut Wei Wen verfasserin aut Katharina Wittfeld verfasserin aut Margaret J. Wright verfasserin aut Ingrid Agartz verfasserin aut Srdjan Djurovic verfasserin aut Lars T. Westlye verfasserin aut Hreinn Stefansson verfasserin aut Kari Stefansson verfasserin aut Sébastien Jacquemont verfasserin aut Paul M. Thompson verfasserin aut Ole A. Andreassen verfasserin aut for the ENIGMA-CNV working group verfasserin aut In Translational Psychiatry Nature Publishing Group, 2012 11(2021), 1, Seite 16 (DE-627)660807378 (DE-600)2609311-X 21583188 nnns volume:11 year:2021 number:1 pages:16 https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/article/d73de80b364645c5b361b86e0292b8a5 kostenfrei https://doi.org/10.1038/s41398-021-01213-0 kostenfrei https://doaj.org/toc/2158-3188 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2021 1 16 |
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Ida E. Sønderby @@aut@@ Dennis van der Meer @@aut@@ Clara Moreau @@aut@@ Tobias Kaufmann @@aut@@ G. Bragi Walters @@aut@@ Maria Ellegaard @@aut@@ Abdel Abdellaoui @@aut@@ David Ames @@aut@@ Katrin Amunts @@aut@@ Micael Andersson @@aut@@ Nicola J. Armstrong @@aut@@ Manon Bernard @@aut@@ Nicholas B. Blackburn @@aut@@ John Blangero @@aut@@ Dorret I. Boomsma @@aut@@ Henry Brodaty @@aut@@ Rachel M. Brouwer @@aut@@ Robin Bülow @@aut@@ Rune Bøen @@aut@@ Wiepke Cahn @@aut@@ Vince D. Calhoun @@aut@@ Svenja Caspers @@aut@@ Christopher R. K. Ching @@aut@@ Sven Cichon @@aut@@ Simone Ciufolini @@aut@@ Benedicto Crespo-Facorro @@aut@@ Joanne E. Curran @@aut@@ Anders M. Dale @@aut@@ Shareefa Dalvie @@aut@@ Paola Dazzan @@aut@@ Eco J. C. de Geus @@aut@@ Greig I. de Zubicaray @@aut@@ Sonja M. C. de Zwarte @@aut@@ Sylvane Desrivieres @@aut@@ Joanne L. Doherty @@aut@@ Gary Donohoe @@aut@@ Bogdan Draganski @@aut@@ Stefan Ehrlich @@aut@@ Else Eising @@aut@@ Thomas Espeseth @@aut@@ Kim Fejgin @@aut@@ Simon E. Fisher @@aut@@ Tormod Fladby @@aut@@ Oleksandr Frei @@aut@@ Vincent Frouin @@aut@@ Masaki Fukunaga @@aut@@ Thomas Gareau @@aut@@ Tian Ge @@aut@@ David C. Glahn @@aut@@ Hans J. Grabe @@aut@@ Nynke A. Groenewold @@aut@@ Ómar Gústafsson @@aut@@ Jan Haavik @@aut@@ Asta K. Haberg @@aut@@ Jeremy Hall @@aut@@ Ryota Hashimoto @@aut@@ Jayne Y. Hehir-Kwa @@aut@@ Derrek P. Hibar @@aut@@ Manon H. J. Hillegers @@aut@@ Per Hoffmann @@aut@@ Laurena Holleran @@aut@@ Avram J. Holmes @@aut@@ Georg Homuth @@aut@@ Jouke-Jan Hottenga @@aut@@ Hilleke E. Hulshoff Pol @@aut@@ Masashi Ikeda @@aut@@ Neda Jahanshad @@aut@@ Christiane Jockwitz @@aut@@ Stefan Johansson @@aut@@ Erik G. Jönsson @@aut@@ Niklas R. Jørgensen @@aut@@ Masataka Kikuchi @@aut@@ Emma E. M. Knowles @@aut@@ Kuldeep Kumar @@aut@@ Stephanie Le Hellard @@aut@@ Costin Leu @@aut@@ David E. J. Linden @@aut@@ Jingyu Liu @@aut@@ Arvid Lundervold @@aut@@ Astri Johansen Lundervold @@aut@@ Anne M. Maillard @@aut@@ Nicholas G. Martin @@aut@@ Sandra Martin-Brevet @@aut@@ Karen A. Mather @@aut@@ Samuel R. Mathias @@aut@@ Katie L. McMahon @@aut@@ Allan F. McRae @@aut@@ Sarah E. Medland @@aut@@ Andreas Meyer-Lindenberg @@aut@@ Torgeir Moberget @@aut@@ Claudia Modenato @@aut@@ Jennifer Monereo Sánchez @@aut@@ Derek W. Morris @@aut@@ Thomas W. Mühleisen @@aut@@ Robin M. Murray @@aut@@ Jacob Nielsen @@aut@@ Jan E. Nordvik @@aut@@ Lars Nyberg @@aut@@ Loes M. Olde Loohuis @@aut@@ Roel A. Ophoff @@aut@@ Michael J. Owen @@aut@@ Tomas Paus @@aut@@ Zdenka Pausova @@aut@@ Juan M. Peralta @@aut@@ G. Bruce Pike @@aut@@ Carlos Prieto @@aut@@ Erin B. Quinlan @@aut@@ Céline S. Reinbold @@aut@@ Tiago Reis Marques @@aut@@ James J. H. Rucker @@aut@@ Perminder S. Sachdev @@aut@@ Sigrid B. Sando @@aut@@ Peter R. Schofield @@aut@@ Andrew J. Schork @@aut@@ Gunter Schumann @@aut@@ Jean Shin @@aut@@ Elena Shumskaya @@aut@@ Ana I. Silva @@aut@@ Sanjay M. Sisodiya @@aut@@ Vidar M. Steen @@aut@@ Dan J. Stein @@aut@@ Lachlan T. Strike @@aut@@ Ikuo K. Suzuki @@aut@@ Christian K. Tamnes @@aut@@ Alexander Teumer @@aut@@ Anbupalam Thalamuthu @@aut@@ Diana Tordesillas-Gutiérrez @@aut@@ Anne Uhlmann @@aut@@ Magnus O. Ulfarsson @@aut@@ Dennis van ‘t Ent @@aut@@ Marianne B. M. van den Bree @@aut@@ Pierre Vanderhaeghen @@aut@@ Evangelos Vassos @@aut@@ Wei Wen @@aut@@ Katharina Wittfeld @@aut@@ Margaret J. Wright @@aut@@ Ingrid Agartz @@aut@@ Srdjan Djurovic @@aut@@ Lars T. Westlye @@aut@@ Hreinn Stefansson @@aut@@ Kari Stefansson @@aut@@ Sébastien Jacquemont @@aut@@ Paul M. Thompson @@aut@@ Ole A. Andreassen @@aut@@ for the ENIGMA-CNV working group @@aut@@ |
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Ida E. Sønderby Dennis van der Meer Clara Moreau Tobias Kaufmann G. Bragi Walters Maria Ellegaard Abdel Abdellaoui David Ames Katrin Amunts Micael Andersson Nicola J. Armstrong Manon Bernard Nicholas B. Blackburn John Blangero Dorret I. Boomsma Henry Brodaty Rachel M. Brouwer Robin Bülow Rune Bøen Wiepke Cahn Vince D. Calhoun Svenja Caspers Christopher R. K. Ching Sven Cichon Simone Ciufolini Benedicto Crespo-Facorro Joanne E. Curran Anders M. Dale Shareefa Dalvie Paola Dazzan Eco J. C. de Geus Greig I. de Zubicaray Sonja M. C. de Zwarte Sylvane Desrivieres Joanne L. Doherty Gary Donohoe Bogdan Draganski Stefan Ehrlich Else Eising Thomas Espeseth Kim Fejgin Simon E. Fisher Tormod Fladby Oleksandr Frei Vincent Frouin Masaki Fukunaga Thomas Gareau Tian Ge David C. Glahn Hans J. Grabe Nynke A. Groenewold Ómar Gústafsson Jan Haavik Asta K. Haberg Jeremy Hall Ryota Hashimoto Jayne Y. Hehir-Kwa Derrek P. Hibar Manon H. J. Hillegers Per Hoffmann Laurena Holleran Avram J. Holmes Georg Homuth Jouke-Jan Hottenga Hilleke E. Hulshoff Pol Masashi Ikeda Neda Jahanshad Christiane Jockwitz Stefan Johansson Erik G. Jönsson Niklas R. Jørgensen Masataka Kikuchi Emma E. M. Knowles Kuldeep Kumar Stephanie Le Hellard Costin Leu David E. J. Linden Jingyu Liu Arvid Lundervold Astri Johansen Lundervold Anne M. Maillard Nicholas G. Martin Sandra Martin-Brevet Karen A. Mather Samuel R. Mathias Katie L. McMahon Allan F. McRae Sarah E. Medland Andreas Meyer-Lindenberg Torgeir Moberget Claudia Modenato Jennifer Monereo Sánchez Derek W. Morris Thomas W. Mühleisen Robin M. Murray Jacob Nielsen Jan E. Nordvik Lars Nyberg Loes M. Olde Loohuis Roel A. Ophoff Michael J. Owen Tomas Paus Zdenka Pausova Juan M. Peralta G. Bruce Pike Carlos Prieto Erin B. Quinlan Céline S. Reinbold Tiago Reis Marques James J. H. Rucker Perminder S. Sachdev Sigrid B. Sando Peter R. Schofield Andrew J. Schork Gunter Schumann Jean Shin Elena Shumskaya Ana I. Silva Sanjay M. Sisodiya Vidar M. Steen Dan J. Stein Lachlan T. Strike Ikuo K. Suzuki Christian K. Tamnes Alexander Teumer Anbupalam Thalamuthu Diana Tordesillas-Gutiérrez Anne Uhlmann Magnus O. Ulfarsson Dennis van ‘t Ent Marianne B. M. van den Bree Pierre Vanderhaeghen Evangelos Vassos Wei Wen Katharina Wittfeld Margaret J. Wright Ingrid Agartz Srdjan Djurovic Lars T. Westlye Hreinn Stefansson Kari Stefansson Sébastien Jacquemont Paul M. Thompson Ole A. Andreassen for the ENIGMA-CNV working group |
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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans |
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Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. |
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Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. |
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Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function. |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ006945325</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230309210943.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230225s2021 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1038/s41398-021-01213-0</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ006945325</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJd73de80b364645c5b361b86e0292b8a5</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RC321-571</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Ida E. Sønderby</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract 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 measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Neurosciences. Biological psychiatry. Neuropsychiatry</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Dennis van der Meer</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Clara Moreau</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Tobias Kaufmann</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">G. Bragi Walters</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Maria Ellegaard</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Abdel Abdellaoui</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">David Ames</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Katrin Amunts</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Micael Andersson</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Nicola J. Armstrong</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Manon Bernard</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Nicholas B. Blackburn</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">John Blangero</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Dorret I. Boomsma</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Henry Brodaty</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rachel M. Brouwer</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Robin Bülow</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Rune Bøen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Wiepke Cahn</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Vince D. Calhoun</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Svenja Caspers</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Christopher R. K. Ching</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Sven Cichon</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Simone Ciufolini</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Benedicto Crespo-Facorro</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Joanne E. Curran</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Anders M. Dale</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Shareefa Dalvie</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Paola Dazzan</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Eco J. C. de Geus</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Greig I. de Zubicaray</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Sonja M. 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Doherty</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Gary Donohoe</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Bogdan Draganski</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stefan Ehrlich</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Else Eising</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Thomas Espeseth</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Kim Fejgin</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Simon E. 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Glahn</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Hans J. Grabe</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Nynke A. Groenewold</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ómar Gústafsson</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jan Haavik</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Asta K. Haberg</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jeremy Hall</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Ryota Hashimoto</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jayne Y. Hehir-Kwa</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Derrek P. Hibar</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Manon H. J. 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Holmes</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Georg Homuth</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Jouke-Jan Hottenga</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Hilleke E. Hulshoff Pol</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Masashi Ikeda</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Neda Jahanshad</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Christiane Jockwitz</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stefan Johansson</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Erik G. Jönsson</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Niklas R. Jørgensen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Masataka Kikuchi</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Emma E. M. Knowles</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Kuldeep Kumar</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stephanie Le Hellard</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Costin Leu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">David E. J. 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