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  • PhD Student
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  • Post-doc
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  • Research Engineer
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  • Undergraduate Student
  • Veterinary
  • Visiting Scientist
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  • Director of Center
  • Director of Department
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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Scientific Fields
Diseases
Organisms
Applications
Technique

About

  • Identification of genes involved in ASD (autism spectrum disorders)
    • CNV (Copy Number Variants) pipeline from SNP arrays:
      – quality control
      – CNV calling with 1 to 3 algorithms
      – merging of the detected CNV
      – defragmentation of the CNV 
      – annotation and frequencies in cohort and DGV
      – visualization in genome browsers (IGV, UCSC)
      – inheritance analysis
    • Whole exome sequencing and whole genome sequencing pipelines:

      – quality control
      – mapping
      – variant calling (SNV: Single Nuclotide Variant, InDel: Insertion / Deletion, SV: Structural Variants, including CNV: Copy Number Variants)
      – annotation
      – filtering
      – cohort and family analysis

Projects

Project
Ongoing
9 Members

Étude des facteurs génétiques impliqués dans l’autisme et les troubles apparentés (projet “C07/C16”)

Richard Delorme (PI)

Sorry, this entry is only available in FR.
Project
Ongoing
11 Members

PARIS: Paris Autism Research International Sib-Pair Study

Thomas Bourgeron (PI)

The Paris Autism Research International Sib-pair (PARIS) Study has been launched as a collaborative project by Prof. M. Leboyer (Paris) and Prof. C. Gillberg (Göteborg) in the 2000s. Its main goal is to join […]
Project
Ongoing
13 Members

EU-AIMS

Thomas Bourgeron (PI)

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 […]
Project
Ongoing
18 Members

Background on the genetics of ASD

Thomas Bourgeron (PI)

Autism spectrum disorders (ASD) 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 […]
Project
Ongoing
15 Members

Phelan-McDermid Syndrome: from mechanisms to treatments

Thomas Bourgeron (PI)

Our team identified the first mutations in the SHANK3 gene, showing it’s role in autism and Phelan-McDermid Syndrome (PMS). Thanks to a donation from the French Association of Phelan-McDermid Syndrome, we will continue the […]
Project
Ongoing
8 Members

The serotonin-NAS-melatonin pathway and susceptibility to ASD

Thomas Bourgeron (PI)

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 […]

Publications

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