Calls for Collaboration
To promote collaboration between researchers, the ERN-ITHACA Research Workgroup has created this virtual plaform of calls for collaborative clinical research on developmental disorders.
These calls typically aim to rapidly build up consistent clinical series for rare monogenic disorders, in order to better delineate the clinical spectrum and natural history of recently identified entities in the field of ITHACA. The calls will be disseminated to the mailing list of ITHACA with regular reminders, and posted below.
ITHACA Team will follow up the success of the call during the year that follows its publication. Any publication issued from this call should acknowledge ITHACA.
Download here the template to submit your call by email to the coordination team
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August 2, 2021
CTNNA3 microdeletion: a description of clinical features
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August 2, 2021
A novel X-linked syndromic neurodevelopmental disorders associated with WDR44 pathogenic variants
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August 2, 2021
TRA2B-associated neurodevelopmental delay
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July 19, 2021
De novo missense variants in EIF3I cause a novel neurodevelopmental disorder with midline brain defects and skeletal abnormalities
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July 13, 2021
Search for patients harbouring a de novo heterozygous variant in SP9 gene
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June 28, 2021
FOREIGN (FOSL2-related signs)
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June 28, 2021
POGZ variants in neurodevelopmental disorders
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June 22, 2021
BCL11B related disorder : clinical phenotype, neuropsychological profile, brain MRI characteristics and epigenetic signature
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June 16, 2021
Search for patients with biallelic variants in genes implicated in the ufmylation pathway
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June 14, 2021
MAP3K7-associated phenotype