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 16, 2021
A novel neurodevelopmental disorders associated with heterozygous DLX1 variants
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August 16, 2021
Further delineation of the phenotypic spectrum associated to BMP4 pathogenic variants
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August 16, 2021
XPO7-associated neurodevelopmental disorder
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August 16, 2021
CTNNA3 microdeletion: a description of clinical features
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August 9, 2021
Development of a DNA methylation episignature for variants in KDM3
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August 4, 2021
KBG syndrome evolving phenotype
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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