Sullivan, Patrick F. and Owen, Michael J.
2020.
Increasing the clinical psychiatric knowledge base about pathogenic copy number variation.
American Journal of Psychiatry
177
(3)
, pp. 204-209.
10.1176/appi.ajp.2019.19040335
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Official URL: http://dx.doi.org/10.1176/appi.ajp.2019.19040335
Abstract
Specific copy number variants (CNVs) have been robustly associated with intellectual disability, autism, and schizophrenia. Most of the literature focus has been on documenting the existence of these phenomena. There are few data to guide therapeutic choices for these “orphan” diseases. We call for systematic and longitudinal case reports which, if carefully conducted, may provide crucial initial knowledge to guide therapeutics. We provide a step-by-step overview, a tailored set of consensus criteria for high-quality case reports, and a specific set of learning resources.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) |
Publisher: | American Psychiatric Publishing |
ISSN: | 0002-953X |
Date of First Compliant Deposit: | 13 March 2020 |
Date of Acceptance: | 18 August 2019 |
Last Modified: | 17 Mar 2020 04:51 |
URI: | http://orca.cf.ac.uk/id/eprint/130392 |
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