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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October 24, 2022
Delineation of the adult phenotype of Nicolaides-Baraitser, Coffin-Siris, Costello and CFC syndrome
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October 24, 2022
HPDL bi-allelic variants
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October 7, 2022
The phenotype associated with MYO18A variants
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October 3, 2022
Prenatal and fetal description of 3M Syndrome
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September 29, 2022
Green says go, amber slow, red spells woe
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September 26, 2022
ABCA2 variants – defining genotype-phenotype correlation
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September 21, 2022
Genotype-phenotype characterization of DLG4-related synaptopathy
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August 16, 2022
Expanded phenotype of RHOA-related mosaic neuroectodermal disorder
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August 8, 2022
RASopathies associated with prenatal hypertrophic cardiomyopathy
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July 19, 2022
Expanding the phenotypic and genotypic spectrum of NAA15-related disorder