​Center's target audience

  1. Scientists in academic and other research institutions, conducting basic and/or clinical genetic studies
  2. Clinical genetics physician
  3. Physicians from diverse specialties, e.g. neurologists, pediatricians, psychiatrists etc.

Relevant studies

  1. Studies involving patients which have not yet undergo a genetic testing, and of which a molecular diagnosis is not yet available
  2. Studies involving patients without a molecular diagnosis, who underwent partial genetic testing such as sequencing of a limited set of genes, DNA microarrays or linkage analyses
  3. Studies involving patients without a molecular diagnosis, who underwent exome or genome sequencing but the genetic cause of their disease has not yet been identified
  4. Studies involving patients for which a list of candidate causative disease genes has been proposed, but not yet validated.
  5. Studies involving patients for which the causative mutation and gene have been identified, and wish to elucidate the disease mechanism.

Studies may be carried out on single cases, several cases from the same familiy, or unrelated cases having shared phenotypes or clinical manifestations.