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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January 31, 2024
LIFR- and IL6ST-related Stüve-Wiedemann syndrome
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January 31, 2024
PUF60-related Verheij syndrome
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January 29, 2024
LMNB1- and LMNB2-related neurodevelopmental disorders
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January 24, 2024
MBD6: A promising candidate gene for neurodevelopmental disorders
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January 23, 2024
Genotype-phenotype characterization of EPRS1-related disorder
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January 22, 2024
Clinical characterisation of individuals with pathogenic variants in WDR13 gene
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January 19, 2024
LYST-related Chediak-Higashi-Syndrome
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January 18, 2024
Expanding the clinical and molecular spectrum of DPF2-associated Coffin-Siris syndrome type 7
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January 16, 2024
DNA methylation profile of Mowat-Wilson syndrome: a study on individuals with atypical presentation or uncertain genotypic correlation
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January 15, 2024
WDR45-related neurodegeneration with brain iron accumulation