1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Autor: 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

Publikováno v: Translational Psychiatry, Vol 11, Iss 1, Pp 1-16 (2021)

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 prev

Externí odkaz: https://doaj.org/article/d73de80b364645c5b361b86e0292b8a5

Generalized Structured Component Analysis in candidate gene association studies: applications and limitations [version 2; peer review: 2 approved]

Autor: Paul A. Thompson, Dorothy V. M. Bishop, Else Eising, Simon E. Fisher, Dianne F. Newbury

Publikováno v: Wellcome Open Research, Vol 4 (2020)

Background: Generalized Structured Component Analysis (GSCA) is a component-based alternative to traditional covariance-based structural equation modelling. This method has previously been applied to test for association between candidate genes and c

Externí odkaz: https://doaj.org/article/9fe0b598362b46fcad9e584b7bc95b09

Using neuroimaging genomics to investigate the evolution of human brain structure

Autor: Gökberk Alagöz, Barbara Molz, Else Eising, Dick Schijven, Clyde Francks, Jason L. Stein, Simon E. Fisher

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences USA, 119, 40, pp. 1-9
Proceedings of the National Academy of Sciences USA, 119, 1-9

Alterations in brain size and organization represent some of the most distinctive changes in the emergence of our species. Yet, there is limited understanding of how genetic factors contributed to altered neuroanatomy during human evolution. Here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf3758670374e27dd5a387f933d1a7b
https://doi.org/10.1073/pnas.2200638119

THE GENETIC ARCHITECTURE OF BEAT SYNCHRONIZATION THROUGH A NEURODEVELOPMENTAL AND NEURO-FUNCTIONAL LENS

Autor: Alyssa Scartozzi, Giacomo Bignardi, Nancy J. Cox, Else Eising, Simon E. Fisher, Reyna L. Gordon

Publikováno v: European Neuropsychopharmacology. 63:e280-e281

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5ed733713e12fee1be2010282de1b96
https://doi.org/10.1016/j.euroneuro.2022.07.498

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

Autor: Bruce Pike, Masaki Fukunaga, Erik G. Jönsson, Robin M. Murray, Abdel Abdellaoui, Christopher R.K. Ching, Simon E. Fisher, Henry Brodaty, James Rucker, Gary Donohoe, Robin Bülow, Greig I. de Zubicaray, Stefan Johansson, Katrin Amunts, Katharina Wittfeld, Arvid Lundervold, Vincent Frouin, Ida E Sønderby, Tetyana Zayats, Carlos Prieto, Vince D. Calhoun, Anders M. Dale, Hilleke E. Hulshoff Pol, Tomáš Paus, Lars Nyberg, David C. Glahn, Benedicto Crespo-Facorro, Nicholas B. Blackburn, Gunter Schumann, Thomas Espeseth, Lars T. Westlye, Loes M. Olde Loohuis, Dan J. Stein, Dorret I. Boomsma, Dennis van der Meer, Stefan Ehrlich, Stephanie Le Hellard, Elena Shumskaya, Tiago Reis Marques, Manon Bernard, Nicholas G. Martin, Jan Haavik, Rachel M. Brouwer, Simone Ciufolini, Marta Di Forti, Shareefa Dalvie, Perminder S. Sachdev, Oleksandr Frei, Emma Knowles, Samuel R. Mathias, Else Eising, Ingrid Agartz, Clara Moreau, Nicola J. Armstrong, Dennis van 't Ent, Norman Delanty, Christian K. Tamnes, Evangelos Vassos, Marianne Bernadette van den Bree, Christiane Jockwitz, Magnus O. Ulfarsson, Katie L. McMahon, Allan F. McRae, Thomas W. Mühleisen, Peter R. Schofield, Sarah E. Medland, Hreinn Stefansson, David Edmund Johannes Linden, Céline S. Reinbold, Sanjay M. Sisodiya, Wei Wen, Paul M. Thompson, Jouke-Jan Hottenga, Paola Dazzan, Kari Stefansson, Alexander Teumer, Eco J. C. de Geus, Per Hoffmann, Neda Jahanshad, Jingyu Liu, Joanne E. Curran, Juan M. Peralta, Laurena Holleran, Ana I. Silva, Asta Håberg, Thomas Gareau, Karen A. Mather, Srdjan Djurovic, Lachlan T. Strike, Anbupalam Thalamuthu, Hans J. Grabe, Ryota Hashimoto, Tormod Fladby, Manon H.J. Hillegers, Tobias Kaufmann, Masataka Kikuchi, Jan Egil Nordvik, Zdenka Pausova, Omar Gustafsson, Gianpiero L. Cavalleri, Margaret J. Wright, Nynke A. Groenewold, Wiepke Cahn, Astri J. Lundervold, Michael John Owen, Diana Tordesillas-Gutiérrez, Sven Cichon, Sonja M C de Zwarte, Torgeir Moberget, Vidar M. Steen, John Blangero, Derek W. Morris, Roel A. Ophoff, Derrek P. Hibar, Andrew J. Schork, Anouk den Braber, Jayne Y. Hehir-Kwa, G. Bragi Walters, Micael Andersson, Sigrid Botne Sando, Joanne L. Doherty, Aiden Corvin, Sébastien Jacquemont, Erin Burke Quinlan, John B.J. Kwok, Anne Uhlmann, David Ames, Jean Shin, Svenja Caspers, Sylvane Desrivières, Ole A. Andreassen, Masashi Ikeda

Publikováno v: JAMA Psychiatry, 77(4), 420-430. American Medical Association
JAMA Psychiatry
JAMA psychiatry 77(4), 420 (2020). doi:10.1001/jamapsychiatry.2019.3779
Digital.CSIC. Repositorio Institucional del CSIC
instname
JAMA psychiatry 77(4), 420-430 (2020). doi:10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 4, pp. 420-430
van der Meer, D, Abdellaoui, A, Boomsma, D I, de Geus, E J C, den Braber, A, Hottenga, J-J, van 't Ent, D, Andreassen, O A & Writing Committee for the ENIGMA-CNV Working Group 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779
JAMA Psychiatry, 77, 420-430
van der Meer, D, Sønderby, I E, Kaufmann, T, Walters, G B, Abdellaoui, A, Ames, D, Amunts, K, Andersson, M, Armstrong, N J, Bernard, M, Blackburn, N B, Blangero, J, Boomsma, D I, Brodaty, H, Brouwer, R M, Bülow, R, Cahn, W, Calhoun, V D, Caspers, S, Cavalleri, G L, Ching, C R K, Cichon, S, Ciufolini, S, Corvin, A, Crespo-Facorro, B, Curran, J E, Dalvie, S, Dazzan, P, de Geus, E J C, de Zubicaray, G I, de Zwarte, S M C, Delanty, N, den Braber, A, Desrivieres, S, di Forti, M, Doherty, J L, Donohoe, G, Ehrlich, S, Eising, E, Espeseth, T, Fisher, S E, Fladby, T, Frei, O, Frouin, V, Fukunaga, M, Gareau, T, Glahn, D C, Grabe, H J, Groenewold, N A, Gústafsson, Ó, Haavik, J, Haberg, A K, Hashimoto, R, Hehir-Kwa, J Y, Hibar, D P, Hillegers, M H J, Hoffmann, P, Holleran, L, Hottenga, J-J, Hulshoff Pol, H E, Ikeda, M, Jacquemont, S B, Jahanshad, N, Jockwitz, C, Johansson, S, Jönsson, E G, Kikuchi, M, Knowles, E E M, Kwok, J B, le Hellard, S, Linden, D E J, Liu, J, Lundervold, A, Lundervold, A J, Martin, N G, Mather, K A, Mathias, S R, McMahon, K L, McRae, A F, Medland, S E, Moberget, T, Moreau, C, Morris, D W, Mühleisen, T W, Murray, R M, Nordvik, J E, Nyberg, L, Olde Loohuis, L M, Ophoff, R A, Owen, M J, Paus, T, Pausova, Z, Peralta, J M, Pike, B, Prieto, C, Quinlan, E B, Reinbold, C L S, Reis Marques, T, Rucker, J J H, Sachdev, P S, Sando, S B, Schofield, P R, Schork, A J, Schumann, G, Shin, J, Shumskaya, E, Silva, A I, Sisodiya, S M, Steen, V M, Stein, D J, Strike, L T, Tamnes, C K, Teumer, A, Thalamuthu, A, Tordesillas-Gutiérrez, D, Uhlmann, A, Úlfarsson, M Ö, van 't Ent, D, van den Bree, M B M, Vassos, E, Wen, W, Wittfeld, K, Wright, M J, Zayats, T, Dale, A M, Djurovic, S, Agartz, I, Westlye, L T, Stefánsson, H, Stefánsson, K R, Thompson, P M & Andreassen, O A 2020, ' Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition ', JAMA Psychiatry, vol. 77, no. 4, pp. 420-430 . https://doi.org/10.1001/jamapsychiatry.2019.3779

ENIGMA-CNV Working Group: van der Meer, Dennis; Sonderby, Ida E; Kaufmann, Tobias; Walters, G Bragi; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J; Bernard, Manon; Blackburn, Nicholas B; Blangero, John; Boomsm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e1370615c6bae221f0c55617c009c1
https://doi.org/10.1001/jamapsychiatry.2019.3779