Latest News
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EuroNDD : registration & abstact submission open!
We are excited to officially launch the registration and abstract submission for the third edition of the EuroNDD meeting, the first European workshop for a multidisciplinary view on rare genetic neurodevelopmental disorders! Building on the success of previous editions, next year’s meeting will feature research presentations, panel discussions, and interactive workshops designed to encourage knowledge-sharing […]
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Save the date for our 3 next ERN-ITHACA Webinars!
NON-CODING GENOME AND HUMAN DISEASE Recent developments in genomic technologies have enabled the genome-wide identification of regulatory elements and chromatin interactions, controlling the spatiotemporal gene expression. In this webinar, we will explore the significant involvement of non-coding genome in various human diseases, a rapidly evolving field of human genomics. HERE to register and see the full […]
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CPMS 2.0 goes mobile!
The Mobile Apps of CPMS 2.0 are now officially available to the general public on both Android and Apple stores, ready to unleash the power of portability and maybe revolutionize the way we will collaborate on the go! This achievement is coupled with the deployment of release 4.2 of CPMS 2.0 desktop, which remains the […]
Open Calls
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September 17, 2025
Clinical phenotypes and natural history of patients carrying a CASK gene variant
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September 17, 2025
Expanding the phenotypic and genotypic spectrum of TIMES syndrome, a LRRC8C-related disorder
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September 16, 2025
Expanding the phenotypic and genotypic spectrum of 12p11 deletion
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July 10, 2025
ZMYND11-related disorder: clinical phenotype and DNA methylation profiling