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
-
April 7, 2021
Expanding the phenotype related to de novo missense variants in HNRNPH2
-
April 2, 2021
Correlation between intellectual disability and cutaneous skin mosaicism
-
March 22, 2021
Clinical and molecular characterization of a novel MYCN related syndrome – A mirror phenotype and molecular of the Feingold syndrome
-
March 15, 2021
B4GALT5 as potential candidate gene for a novel sphingolipid disorder
-
March 3, 2021
RAB10: a candidate gene for a severe neurodevelopmental syndrome
-
February 8, 2021
CHAMP1 clinical spectrum (MRD40 – OMIM 616579)
-
January 19, 2021
Phenotypic delineation of patients with bi-allelic CDK10 mutations (Al Kaissi syndrome)