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

by Valsesia, Armand, Macé, Aurélien, Jacquemont, Sébastien, Beckmann, Jacques S., Kutalik, Zoltán
Published 2013

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

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

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

by 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
Published 2012

The challenges of clinical trials in fragile X syndrome

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

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

by 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
Published 2012

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

by 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
Published 2016

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

by Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núňez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H, Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark, Tolmie, John, Turnpenny, Peter, Wright, Michael, Douglas, Jenny, Rahman, Nazneen
Published 2011

Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) – a Pan Canadian cohort study

by Anand, Sonia S., Tu, Jack V., Awadalla, Philip, Black, Sandra, Boileau, Catherine, Busseuil, David, Desai, Dipika, Després, Jean-Pierre, de Souza, Russell J., Dummer, Trevor, Jacquemont, Sébastien, Knoppers, Bartha, Larose, Eric, Lear, Scott A., Marcotte, Francois, Moody, Alan R., Parker, Louise, Poirier, Paul, Robson, Paula J., Smith, Eric E., Spinelli, John J., Tardif, Jean-Claude, Teo, Koon K., Tusevljak, Natasa, Friedrich, Matthias G.
Published 2016

Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity

by Walters, Robin G., Coin, Lachlan J. M., Ruokonen, Aimo, de Smith, Adam J., El-Sayed Moustafa, Julia S., Jacquemont, Sebastien, Elliott, Paul, Esko, Tõnu, Hartikainen, Anna-Liisa, Laitinen, Jaana, Männik, Katrin, Martinet, Danielle, Meyre, David, Nauck, Matthias, Schurmann, Claudia, Sladek, Rob, Thorleifsson, Gudmar, Thorsteinsdóttir, Unnur, Valsesia, Armand, Waeber, Gerard, Zufferey, Flore, Balkau, Beverley, Pattou, François, Metspalu, Andres, Völzke, Henry, Vollenweider, Peter, Stefansson, Kári, Järvelin, Marjo-Riitta, Beckmann, Jacques S., Froguel, Philippe, Blakemore, Alexandra I. F.
Published 2013

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

by Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien
Published 2012