Our research

Our lab is focused on understanding the effect of rare genomic variants on cognition, behavior, brain structure and function. We have initially focused on specific genomic variants such as fragile X syndrome and the 16p11.2 deletions and duplications. These strategies are very powerful, and circumvent the extreme biological heterogeneity of autism and neurodevelopmental disorders (NDs). We recognize, however, that most rare genetic variants identified in the clinic remain undocumented and continuing to focus on only a few rare mutations is not a viable strategy. We are currently developing new modeling strategies to study the effect on cognition, behavior, brain structure and function of very rare non-recurrent mutations genome wide. Our first results are now published - Huguet and al. (JAMA psychiatry 2018). A web based tool derived from the is study is available here.

1q21.1 CNV

Tar region
Class I deletion
Class II deletion

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15q11.2 CNV

BP1 & BP2 region


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15q13.3 CNV




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16p11.2 CNV

Distal region
Proximal region

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