Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions

Autor: Clara A Moreau, Kuldeep Kumar, Annabelle Harvey, Guillaume Huguet, Sebastian G W Urchs, Laura M Schultz, Hanad Sharmarke, Khadije Jizi, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Jean-Louis Martineau, Pierre Orban, Ana Isabel Silva, Jeremy Hall, Marianne B M van den Bree, Michael J Owen, David E J Linden, Sarah Lippé, Carrie E Bearden, Laura Almasy, David C Glahn, Paul M Thompson, Thomas Bourgeron, Pierre Bellec, Sebastien Jacquemont

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, In press, pp.awac315. ⟨10.1093/brain/awac315⟩
Brain, 146(4), 1686-1696. Oxford University Press

Pleiotropy occurs when a genetic variant influences more than one trait. This is a key property of the genomic architecture of psychiatric disorders and has been observed for rare and common genomic variants. It is reasonable to hypothesize that the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f564df84149cb3bdae3271f9bf177271
https://cris.maastrichtuniversity.nl/en/publications/98059fb2-56aa-46b9-9608-b61988b51abb

Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence

Autor: Jakub Kopal, Kuldeep Kumar, Karin Saltoun, Claudia Modenato, Clara A. Moreau, Sandra Martin-Brevet, Guillaume Huguet, Martineau Jean-Louis, Charles-Olivier Martin, Zohra Saci, Nadine Younis, Petra Tamer, Elise Douard, Anne M. Maillard, Borja Rodriguez-Herreros, Aurèlie Pain, Sonia Richetin, Leila Kushan, Ana I. Silva, Marianne B. M. van den Bree, David E. J. Linden, Michael J. Owen, Jeremy Hall, Sarah Lippé, Bogdan Draganski, Ida E. Sønderby, Ole A. Andreassen, David C. Glahn, Paul M. Thompson, Carrie E. Bearden, Sébastien Jacquemont, Danilo Bzdok

Publikováno v: Nature Human Behaviour.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ee62c0b029d0d5828d17e3498e06003
https://doi.org/10.1038/s41562-023-01541-9

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability

Autor: Ian J. Deary, Elise Douard, Thomas Renne, Gunter Schumann, Thomas Bourgeron, W. David Hill, Sarah Lippé, Tomáš Paus, Frédérique Tihy, Khadije Jizi, Sarah E. Harris, Myriam Poirier, Nadine Younis, Catherine Schramm, Zdenka Pausova, Zohra Saci, Charles-Olivier Martin, Sébastien Jacquemont, Petra Tamer, Pauline Monin, Sherif Karama, Paul Redmond, Laura Almasy, Gail Davies, Jade England, Maude Auger, Celia M. T. Greenwood, Guillaume Huguet, David J. Porteous, Antoine Main, Géraldine Mathonnet, David C. Glahn, Sabrina Nowak, Emmanuelle Lemyre, Inga Sophia Knoth, Martineau Jean-Louis, Aurélie Labbe, Catalina Maftei

Publikováno v: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-020-00985-z⟩
Mol Psychiatry
Huguet, G, Schramm, C, Douard, E, Tamer, P, Main, A, Monin, P, England, J, Jizi, K, Renné, T, Poirier, M, Nowak, S, Martin, C-O, Younis, N, Knoth, I S, Jean-louis, M, Saci, Z, Auger, M, Tihy, F, Mathonnet, G, Maftei, C, Léveillé, F, Porteous, D J, Davies, G, Redmond, P, Harris, S, Hill, W D, Lemyre, E, Schumann, G, Bourgeron, T, Pausova, Z, Paus, T, Karama, S, Lippe, S, Deary, I, Almasy, L, Labbe, A, Glahn, D C, M.T Greenwood, C & Jacquemont, S 2021, ' Genome wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability ', Molecular Psychiatry . https://doi.org/10.1038/s41380-020-00985-z
Molecular Psychiatry, 2021, ⟨10.1038/s41380-020-00985-z⟩

International audience; Genomic copy number variants (CNVs) are routinely identified and reported back to patients with neuropsychiatric disorders, but their quantitative effects on essential traits such as cognitive ability are poorly documented. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dfdd3942cf01a09e7cfcd1239f7fd9d
https://hal-pasteur.archives-ouvertes.fr/pasteur-03325369

Neuropsychiatric copy number variants exert shared effects on human brain structure

Autor: Sandra Martin-Brevet, Kuldeep Kumar, Clara Moreau, M. Mallar Chakravarty, Florence Deguire, Elise Douard, Guillaume Huguet, Sarah Lippé, Carrie E. Bearden, Sébastien Jacquemont, Fanny Thébault-Dagher, Claudia Modenato, Sonia Richetin, Charlebois A, Danilo Bzdok, Côté, Bogdan Draganski, Aurélie Pain, Lester Melie-Garcia, van den Bree Mb, Ana I. Silva, Jean-Louis Martineau, Nadine Younis, Petra Tamer, Anne M. Maillard, Charles-Olivier Martin, Jeremy Hall, Michael John Owen, Leila Kushan, David E. J. Linden, Catherine Schramm, Borja Rodriguez-Herreros

BackgroundCopy Number Variants (CNVs) associated with autism and schizophrenia have large effects on brain anatomy. Yet, neuroimaging studies have been conducted one mutation at a time. We hypothesize that neuropsychiatric CNVs may exert general effe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::086464c3d6d0495dacfa4a98dbcc0a6a
https://doi.org/10.1101/2020.04.15.20056531

The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs

Autor: Claudia Modenato, Amy Lin, Sarah Lippé, Carrie E. Bearden, Aurélie Labbe, David Edmund Johannes Linden, Marianne Bernadette van den Bree, Jean-Louis Martineau, Nadine Younis, Pierre Bellec, Petra Tamer, Sebastian Urchs, Hanad Sharmarke, Aia E. Jønch, Elise Douard, Khadije Jizi, Sandra Martin-Brevet, Clara Moreau, Jeremy Hall, Anne M. Maillard, Sébastien Jacquemont, Charles-Olivier Martin, Celia M. T. Greenwood, Guillaume Huguet, Pierre Orban, Kumar Kuldeep, Paul M. Thompson, Michael John Owen, Ana I. Silva

Large effect-size mutations such as copy number variants (CNVs) have the potential to provide key insights into the underlying biological mechanisms linking deleterious genetic variants to brain architecture and neuropsychiatric disorders. To date, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d48c7107bc6ee9220d31936361abf4f6