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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May 17, 2021
Phenothype-Genotype relationships in 3q29-microduplication syndrome
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May 13, 2021
Search for patients with patients with recessive variants in SNX13 gene
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May 12, 2021
Molecular and phenotypic delineation of the MEF2C-related syndrome
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May 10, 2021
Search for patients with de novo variants in DCAF15
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May 10, 2021
Neurodevelopmental disease and brain abnormalities due to YWHAE loss-of-function variants
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May 7, 2021
Search for patients with severe neonatal presentation due to mutations of the ATL1 gene
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April 26, 2021
Osteopathia striata with cranial sclerosis: a further insight
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April 19, 2021
CAMK2A-related neurodevelopmental disorder – description of the clinical and neurological phenotype
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April 14, 2021
Implication of missense variants in the NSD1 gene in Sotos-like phenotype
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April 13, 2021
TRIP12-associated neurodevelopmental disorder