Jacquemont, Sébastien

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Jacquemont, S., Curie, A., des Portes, V., Torrioli, M. G., Berry-Kravis, E., Hagerman, R. J., Ramos, F. J., Cornish, K., He, Y., Paulding, C., et al. (2011) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

Cited by 609

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 605

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 543

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 410

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

Berry-Kravis, E. M., Lindemann, L., Jønch, A. E., Apostol, G., Bear, M. F., Carpenter, R. L., Crawley, J. N., Curie, A., Des Portes, V., Hossain, F., et al. (2018) · Nature Reviews Drug Discovery

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 336

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

Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 326

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 277

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

Berry-Kravis, E., Des Portes, V., Hagerman, R., Jacquemont, S., Charles, P., Visootsak, J., Brinkman, M., Rerat, K., Koumaras, B., Zhu, L., et al. (2016) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 270

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., et al. (2015) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 217

Psychiatric disorders in children with 16p11.2 deletion and duplication

Niarchou, M., Chawner, S. J. R. A., Doherty, J. L., Maillard, A. M., Jacquemont, S., Chung, W. K., Green-Snyder, L., Bernier, R. A., Goin-Kochel, R. P., Hanson, E., et al. (2019) · Translational Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 156

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 118

Measuring and estimating the effect sizes of copy number variants on general intelligence in community-based samples

Huguet, G., Schramm, C., Douard, E., Jiang, L., Labbe, A., Tihy, F., Mathonnet, G., Nizard, S., Lemyre, E., Mathieu, A., et al. (2018) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 96

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

Writing Committee for the ENIGMA-CNV Working Group, van der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 87

The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition

Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., Conus, P., Macé, A., Hadjikhani, N., Metspalu, A., et al. (2016) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 84

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., et al. (2019) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Sønderby, I. E., Gústafsson, Ó., Doan, N. T., Hibar, D. P., Martin-Brevet, S., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 66

Genetic and phenotypic similarity across major psychiatric disorders: a systematic review and quantitative assessment

Bourque, V.-R., Poulain, C., Proulx, C., Moreau, C. A., Joober, R., Forgeot d’Arc, B., Huguet, G., & Jacquemont, S. (2024) · Translational Psychiatry

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 48

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

Leroy, C., Fouveaut, C., Leclercq, S., Jacquemont, S., Boullay, H. D., Lespinasse, J., Delpech, M., Dupont, J.-M., Hardelin, J.-P., & Dodé, C. (2008) · European Journal of Human Genetics

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 48

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations

Cárdenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zürcher, N. R., Addor, M.-C., Andrieux, J., Arveiler, B., et al. (2019) · NeuroImage

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 14