Around 1% of children are diagnosed with autism spectrum disorders (ASD), yet there are currently no drugs designed specifically to treat their main symptoms. Working to change this is the IMI-funded EU-AIMS project. The […]
Communauté des médecins affiliés de l’Institut Pasteur
Please note that this page is under construction This community is composed of MD and MD-PhD who are working in hospitals. They agree to help researchers from Institut Pasteur to identify clinical partners. Choose […]
The project SoNeTAA (Social Neuroscience for Therapeutic Approaches in Autism) combines human-human and human-machine interactions with electroencephalography (EEG) recording to approach social cognition from a situated and reciprocal standpoint. The project especially focuses on […]
Phelan McDermid Syndrome: from mechanisms to treatments
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder with non-specific clinical features. The main symptoms are hypotonia, intellectual disability (ID), absent or delayed speech together with minor dysmorphic features. More than half of the patients […]
Establishment of cohorts of patients with ASD
To tackle the genetic and phenotypic heterogeneity of ASD, our group is part of several national and international consortia that provide the specific expertise required to explore different facets of ASD. In France, our […]
2017Heritability of the melatonin synthesis variability in autism spectrum disorders, Sci Rep 2017 Dec;7(1):17746.
2017A framework to identify contributing genes in patients with Phelan-McDermid syndrome, NPJ Genom Med 2017;2:32.
2016CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders, Mol. Psychiatry 2017 Apr;22(4):625-633.
2015A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability, Eur. J. Hum. Genet. 2016 Jun;24(6):838-43.
201511q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures, Am. J. Med. Genet. A 2015 Dec;167A(12):3019-30.
2014Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments, PLoS Genet. 2014 Sep;10(9):e1004580.
2014Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission, Nature 2014 Jul;511(7508):236-40.
2014Convergence of genes and cellular pathways dysregulated in autism spectrum disorders, Am. J. Hum. Genet. 2014 May;94(5):677-94.
2014Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders, PLoS ONE 2014;9(3):e88600.
2013Heterozygous FA2H mutations in autism spectrum disorders, BMC Med. Genet. 2013;14:124.
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