Our research

Our international research group is working with families to better understand the developmental and medical difficulties related to copy number variants. There is still a lot of work to be done so please contact us to know if you can help advance knowledge on these genetic variants. If you are a professional, please tell your families about us so that they are aware of the research we are conducting.

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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