Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion

Autor: Anne M. Maillard, David Romascano, Julio E. Villalón-Reina, Clara A. Moreau, Joana M. Almeida Osório, Sonia Richetin, Vincent Junod, Paola Yu, Bratislav Misic, Paul M. Thompson, Eleonora Fornari, Marine Jequier Gygax, Sébastien Jacquemont, Nadia Chabane, Borja Rodríguez-Herreros

Publikováno v: Translational Psychiatry, Vol 14, Iss 1, Pp 1-11 (2024)

Abstract Reciprocal Copy Number Variants (CNVs) at the 16p11.2 locus confer high risk for autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs). Morphometric MRI studies have revealed large and pervasive volumetric alterations

Externí odkaz: https://doaj.org/article/121a97baafcc44908fd271c280ac677e

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

The development of attentional control mechanisms in multisensory environments

Autor: Nora Turoman, Ruxandra I. Tivadar, Chrysa Retsa, Anne M. Maillard, Gaia Scerif, Pawel J. Matusz

Publikováno v: Developmental Cognitive Neuroscience, Vol 48, Iss , Pp 100930- (2021)

Outside the laboratory, people need to pay attention to relevant objects that are typically multisensory, but it remains poorly understood how the underlying neurocognitive mechanisms develop. We investigated when adult-like mechanisms controlling on

Externí odkaz: https://doaj.org/article/d9e9a775e0424954a2512505f66af525

Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication

Autor: Stefanie C. Linden, Cameron J. Watson, Jacqueline Smith, Samuel J. R. A. Chawner, Thomas M. Lancaster, Ffion Evans, Nigel Williams, David Skuse, F. Lucy Raymond, Jeremy Hall, Michael J. Owen, David E. J. Linden, LeeAnne Green-Snyder, Wendy K. Chung, Anne M. Maillard, Sébastien Jacquemont, Marianne B. M. van den Bree

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

Externí odkaz: https://doaj.org/article/70c8d703a2c54c389267bed84f61ee90

Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research

Autor: Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn

Publikováno v: Genes; Volume 14; Issue 1; Pages: 169

BACKGROUND: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders' (affected individuals/caregivers) motivation to participate. Members of the Genes to Mental Health Network (G2M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f624037798463c1c598fa73ee8d386c
https://doi.org/10.3390/genes14010169