Sébastien Jacquemont

Thème (s)

• Effets des variants rares sur la cognition, le comportement et le risque pour les maladies psychiatriques. Ces variants rares incluent notamment les délétions et duplications génomiques ainsi que les SNV;
• Neuroimagerie génomique;
• Essais thérapeutique dans pour le syndrome de l’X Fragile;
• Fragile X-associated tremor/ataxia syndrome.

Publications choisies

Effets des variants rares sur la cognition, le comportement et le risque pour les maladies psychiatriques :

• Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review. Raznahan A, Won H, Glahn DC, Jacquemont S.
  JAMA Psychiatry. 2022 Aug 1;79(8):818-828. doi: 10.1001/jamapsychiatry.2022.1450.
• Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. Jacquemont S, Huguet G, Klein M, Chawner SJRA, Donald KA, van den Bree MBM, Sebat J, Ledbetter DH, Constantino JN, Earl RK, McDonald-McGinn DM, van Amelsvoort T, Swillen A, O’Donnell-Luria AH, Glahn DC, Almasy L, Eichler EE, Scherer SW, Robinson E, Bassett AS, Martin CL, Finucane B, Vorstman JAS, Bearden CE, Gur RE; Genes to Mental Health Network.
• Huguet G. et al. Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability. Molecular Psychiatry, 2021.
• Douard E. et al.  Effects-sizes of deletions and duplications on autism risk across the genome. Am J Psychiatry, 2020.
• Huguet G. et al. Measuring and predicting the effect of copy number variants on general intelligence in community-based samples. JAMA Psychiatry, 2018.
• D’Angelo Debra et al. Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities. JAMA Psychiatry, 2016.
• Jacquemont S. et al. Mirror extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus.  Nature 2011 Aug 31.
• Walters RG*, Jacquemont S.* et al.  (shared 1st authorship) A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature, 2010.

Neuroimagerie génomique :

• Brain functional connectivity mirrors genetic pleiotropy in psychiatric conditions. Moreau CA, Kumar K, Harvey A, Huguet G, Urchs S, Schultz LM, Sharmarke H, Jizi K, Martin CO, Younis N, Tamer P, Martineau JL, Orban P, Silva AI, Hall J, van den Bree MBM, Owen MJ, Linden DEJ, Lippé S, Bearden CE, Almasy L, Glahn DC, Thompson PM, Bourgeron T, Bellec P, Jacquemont S.
• Genetic heterogeneity shapes brain connectivity in psychiatry. Clara A. Moreau, PhD1,2,3*, Annabelle Harvey, MS2,3, Kuldeep Kumar, PhD2, Guillaume Huguet, PhD2, Sebastian Urchs, PhD3,4, Elise A. Douard, MS2, Laura M. Schultz, PhD5.14, Hanad Sharmarke, MS3, Khadije Jizi, MS2, Charles-Olivier Martin, PhD2, Nadine Younis, MS2, Petra Tamer, MS2, Thomas Rolland, PhD1, Jean-Louis Martineau2, Pierre Orban, PhD 6,7, Ana Isabel Silva, PhD8,9,10, Jeremy Hall, PhD 8,9, Marianne B.M. van den Bree, PhD8,9, Michael J. Owen, PhD8,9, David E. J. Linden, DPhil9,10, Aurelie Labbe, PhD11, Sarah Lippé, PhD2, Carrie E. Bearden, PhD12, Laura Almasy, PhD5,13,14, David C. Glahn, PhD15,16, Paul M. Thompson, PhD17, Thomas Bourgeron, PhD1, Pierre Bellec, PhD3†, and Sebastien Jacquemont, MD2*† Biological psychiatry Brain. 2022 Sep 5:awac315. doi: 10.1093/brain/awac315.
• Moreau C et al. Dissecting autism and schizophrenia through neuroimaging genomics. Brain, 2021.
• Moreau C et al. Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia. Nature Communication, 2020.
• Martin-Brevet S et al. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biological Psychiatry, 2018.
• Maillard AM et al.  The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Molecular Psychiatry, 2015.

Essais thérapeutique dans pour le syndrome de l’X Fragile :

• Berry-Kravis EM, and Jacquemont S. Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. Nature Reviews Drug Discovery April 2018.
• Elizabeth Berry-Kravis et al. Mavoglurant in adults and adolescents with Fragile X Syndrome: Results of two randomized, double-blind, placebo-controlled trials. Science Translational Medicine, 2016.
• Jacquemont S. et al. Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome is Associated with Differential Response to the mGluR5 Antagonist AFQ056. Science Translational Medicine, 2011.

Fragile X-associated tremor/ataxia syndrome:

• Jacquemont, S.et al. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol, 2007.
• Jacquemont S. et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA, 2004.