My research involves developping innovative and systematic computational approaches to analyze genomics and proteomics data of increasing quantity and quality. My goal is to characterize the mechanisms by which genomes, proteomes and interactomes evolve and how their perturbation can lead to different cellular states. In Prof. Bourgeron’s lab, I study the human protein interaction network to characterize complex genotype-phenotype relationships in the context of autism spectrum disorders. You can find more information on My Research Portal.
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 […]
Background on the genetics of ASD
Autism spectrum disorders are a heterogeneous group of pervasive neurodevelopmental disorders affecting approximately 1% of the population. The diagnosis of ASD is based on impairments in reciprocal social communication and stereotyped behaviors. Behind the […]
Protected: Risk and Resilience in Neuropsychiatry
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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 […]
The serotonin-NAS-melatonin pathway and susceptibility to ASD
Sleep difficulties are a major concern for families with ASD, but are often considered as an epiphenomenon, and therefore do not catch the attention of the medical and scientific community. In 2008, we reported […]
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.
2017Cerebellar Volume in Autism: Literature Meta-analysis and Analysis of the Autism Brain Imaging Data Exchange Cohort, Biol. Psychiatry 2017 Oct;.
2016CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders, Mol. Psychiatry 2017 Apr;22(4):625-633.
2016An inter-species protein-protein interaction network across vast evolutionary distance, Mol. Syst. Biol. 2016;12(4):865.
2015Genome-wide replication landscape of Candida glabrata, BMC Biol. 2015 Sep;13:69.
2015Protein domain-level landscape of cancer-type-specific somatic mutations, PLoS Comput. Biol. 2015 Mar;11(3):e1004147.
2014A proteome-scale map of the human interactome network, Cell 2014 Nov;159(5):1212-26.
2014A chaperome subnetwork safeguards proteostasis in aging and neurodegenerative disease, Cell Rep 2014 Nov;9(3):1135-50.
2014Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage, Genes Dev. 2014 Sep;28(17):1957-75.
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