Increasing the clinical psychiatric knowledge base about pathogenic copy number variation

Sullivan, Patrick F. and Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 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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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
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:	22 Nov 2024 07:15
URI:	https://orca.cardiff.ac.uk/id/eprint/130392

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