International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

© 2017 The Author(s) Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their “diagnostic odyssey,” improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choi...

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Bibliographic Details
Main Authors: Boycott, K., Rath, A., Chong, J., Hartley, T., Alkuraya, F., Baynam, Gareth, Brookes, A., Brudno, M., Carracedo, A., den Dunnen, J., Dyke, S., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S., Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M., Kaufmann, P., Knoppers, B., Krischer, J., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A., Rehm, H., Robinson, P., Sham, P., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M., Zhang, F., Brunner, H., Bamshad, M., Lochmüller, H.
Format: Journal Article
Published: Cell Press 2017
Online Access:http://hdl.handle.net/20.500.11937/72942

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