The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

por Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Publicado 2013

Dissecting autism and schizophrenia through neuroimaging genomics

por Moreau, Clara A, Raznahan, Armin, Bellec, Pierre, Chakravarty, Mallar, Thompson, Paul M, Jacquemont, Sebastien
Publicado 2021

Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism

por Mottron, Laurent, Duret, Pauline, Mueller, Sophia, Moore, Robert D, Forgeot d’Arc, Baudouin, Jacquemont, Sebastien, Xiong, Lan
Publicado 2015

Using developmental regression to reorganize the clinical importance of autistic atypicalities

por Gagnon, David, Zeribi, Abderrahim, Douard, Élise, Courchesne, Valérie, Huguet, Guillaume, Jacquemont, Sébastien, Loum, Mor Absa, Mottron, Laurent
Publicado 2022

Bayonet-shaped language development in autism with regression: a retrospective study

por Gagnon, David, Zeribi, Abderrahim, Douard, Élise, Courchesne, Valérie, Rodríguez-Herreros, Borja, Huguet, Guillaume, Jacquemont, Sébastien, Loum, Mor Absa, Mottron, Laurent
Publicado 2021

Stability of polygenic scores across discovery genome-wide association studies

por Schultz, Laura M., Merikangas, Alison K., Ruparel, Kosha, Jacquemont, Sébastien, Glahn, David C., Gur, Raquel E., Barzilay, Ran, Almasy, Laura
Publicado 2022

The challenges of clinical trials in fragile X syndrome

por Jacquemont, Sébastien, Berry-Kravis, Elizabeth, Hagerman, Randi, von Raison, Florian, Gasparini, Fabrizio, Apostol, George, Ufer, Mike, Des Portes, Vincent, Gomez-Mancilla, Baltazar
Publicado 2013

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach

por Knoth, Inga Sophia, Lajnef, Tarek, Rigoulot, Simon, Lacourse, Karine, Vannasing, Phetsamone, Michaud, Jacques L., Jacquemont, Sébastien, Major, Philippe, Jerbi, Karim, Lippé, Sarah
Publicado 2018

In-vivo probabilistic atlas of human thalamic nuclei based on diffusion- weighted magnetic resonance imaging

por Najdenovska, Elena, Alemán-Gómez, Yasser, Battistella, Giovanni, Descoteaux, Maxime, Hagmann, Patric, Jacquemont, Sebastien, Maeder, Philippe, Thiran, Jean-Philippe, Fornari, Eleonora, Bach Cuadra, Meritxell
Publicado 2018

Robust thalamic nuclei segmentation method based on local diffusion magnetic resonance properties

por Battistella, Giovanni, Najdenovska, Elena, Maeder, Philippe, Ghazaleh, Naghmeh, Daducci, Alessandro, Thiran, Jean-Philippe, Jacquemont, Sébastien, Tuleasca, Constantin, Levivier, Marc, Bach Cuadra, Meritxell, Fornari, Eleonora
Publicado 2016

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents

por Hagerman, Randi, Jacquemont, Sebastien, Berry-Kravis, Elizabeth, Des Portes, Vincent, Stanfield, Andrew, Koumaras, Barbara, Rosenkranz, Gerd, Murgia, Alessandra, Wolf, Christian, Apostol, George, von Raison, Florian
Publicado 2018

Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10

por Marek, Diana, Papin, Stephanie, Ellefsen, Kim, Niederhauser, Julien, Isidor, Nathalie, Ransijn, Adriana, Poupon, Lucienne, Spertini, Francois, Pantaleo, Giuseppe, Bergmann, Sven, Beckmann, Jacques S, Jacquemont, Sebastien, Tanackovic, Goranka
Publicado 2012

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV

por Golzio, Christelle, Willer, Jason, Talkowski, Michael E, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas
Publicado 2012

Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome

por Brasa, Sarah, Mueller, Arne, Jacquemont, Sébastien, Hahne, Florian, Rozenberg, Izabela, Peters, Thomas, He, Yunsheng, McCormack, Christine, Gasparini, Fabrizio, Chibout, Salah-Dine, Grenet, Olivier, Moggs, Jonathan, Gomez-Mancilla, Baltazar, Terranova, Rémi
Publicado 2016

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

por Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E, Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D’Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia
Publicado 2018

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome

por Jacquemont, Sébastien, Pacini, Laura, Jønch, Aia E, Cencelli, Giulia, Rozenberg, Izabela, He, Yunsheng, D’Andrea, Laura, Pedini, Giorgia, Eldeeb, Marwa, Willemsen, Rob, Gasparini, Fabrizio, Tassone, Flora, Hagerman, Randi, Gomez-Mancilla, Baltazar, Bagni, Claudia
Publicado 2018

Spatial control of nucleoporin condensation by fragile X‐related proteins

por Agote‐Aran, Arantxa, Schmucker, Stephane, Jerabkova, Katerina, Jmel Boyer, Inès, Berto, Alessandro, Pacini, Laura, Ronchi, Paolo, Kleiss, Charlotte, Guerard, Laurent, Schwab, Yannick, Moine, Hervé, Mandel, Jean‐Louis, Jacquemont, Sebastien, Bagni, Claudia, Sumara, Izabela
Publicado 2020

Insufficient Evidence for “Autism-Specific” Genes

por Myers, Scott M., Challman, Thomas D., Bernier, Raphael, Bourgeron, Thomas, Chung, Wendy K., Constantino, John N., Eichler, Evan E., Jacquemont, Sebastien, Miller, David T., Mitchell, Kevin J., Zoghbi, Huda Y., Martin, Christa Lese, Ledbetter, David H.
Publicado 2020

Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances

por Tesfaye, Rackeb, Huguet, Guillaume, Schmilovich, Zoe, Renne, Thomas, Loum, Mor Absa, Douard, Elise, Saci, Zohra, Jean-Louis, Martineau, Martineau, Jean Luc, Whelan, Rob, Desrivieres, Sylvane, Heinz, Andreas, Schumann, Gunter, Hayward, Caroline, Elsabbagh, Mayada, Jacquemont, Sebastien
Publicado 2022

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

por Brownstein, Catherine A., Douard, Elise, Haynes, Robin L., Koh, Hyun Yong, Haghighi, Alireza, Keywan, Christine, Martin, Bree, Alexandrescu, Sanda, Haas, Elisabeth A., Vargas, Sara O., Wojcik, Monica H., Jacquemont, Sébastien, Poduri, Annapurna H., Goldstein, Richard D., Holm, Ingrid A.
Publicado 2022