Briault, Sylvain

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

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

Guilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., et al. (2009) · Archives of General Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 429

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Molinari, F., Rio, M., Meskenaite, V., Encha-Razavi, F., Augé, J., Bacq, D., Briault, S., Vekemans, M., Munnich, A., Attié-Bitach, T., et al. (2002) · Science

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 184

Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule

Hébert, B., Pietropaolo, S., Même, S., Laudier, B., Laugeray, A., Doisne, N., Quartier, A., Lefeuvre, S., Got, L., Cahard, D., et al. (2014) · Orphanet Journal of Rare Diseases

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 100

Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in fragile X syndrome mouse model

Bataveljic, D., Pivonkova, H., de Concini, V., Hébert, B., Ezan, P., Briault, S., Bemelmans, A.-P., Pichon, J., Menuet, A., & Rouach, N. (2024) · Nature Communications

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 40

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