Chelly, Jamel

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 768

The Journal of Neurosci

Houbaert, X., Zhang, C.-L., Gambino, F., Lepleux, M., Deshors, M., Normand, E., Levet, F., Ramos-Brossier, M., Billuart, P., Chelly, J., et al. (2014) · Journal of Neuroscience

Cited by 715

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 603

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 373

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

Bienvenu, T., & Chelly, J. (2006) · Nature Reviews Genetics

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 289

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Bahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., et al. (2010) · Brain

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 144

A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation

Pavlowsky, A., Gianfelice, A., Pallotto, M., Zanchi, A., Vara, H., Khelfaoui, M., Valnegri, P., Rezai, X., Bassani, S., Brambilla, D., et al. (2010) · Current Biology

Neuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental Disorders

Cited by 124

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hu, H., Wrogemann, K., Kalscheuer, V., Tzschach, A., Richard, H., Haas, S. A., Menzel, C., Bienek, M., Froyen, G., Raynaud, M., et al. (2009) · The HUGO Journal

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 49

IL1RAPL1 controls inhibitory networks during cerebellar development in mice

Gambino, F., Kneib, M., Pavlowsky, A., Skala, H., Heitz, S., Vitale, N., Poulain, B., Khelfaoui, M., Chelly, J., Billuart, P., et al. (2009) · European Journal of Neuroscience

Neuroscience and Neuropharmacology ResearchNeurogenesis and neuroplasticity mechanisms

Cited by 37

MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation

Gomot, M., Gendrot, C., Verloes, A., Raynaud, M., David, A., Yntema, H. G., Dessay, S., Kalscheuer, V., Frints, S., Couvert, P., et al. (2003) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 37

Target-Specific Vulnerability of Excitatory Synapses Leads to Deficits in Associative Memory in a Model of Intellectual Disorder

Houbaert, X., Zhang, C.-L., Gambino, F., Lepleux, M., Deshors, M., Normand, E., Levet, F., Ramos, M., Billuart, P., Chelly, J., et al. (2013) · The Journal of Neuroscience

Neuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental Disorders

Cited by 31

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Brock, S., Laquerriere, A., Marguet, F., Myers, S. J., Hongjie, Y., Baralle, D., Vanderhasselt, T., Stouffs, K., Keymolen, K., Kim, S., et al. (2023) · Journal of Medical Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 12