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Article

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.

European journal of medical genetics - 1 Dec 2020

Chawner Samuel J R A, Mihaljevic Marina, Morrison Sinead, Eser Hale Yapici, Maillard Anne M, Nowakowska Beata, van den Bree Marianne B M, Swillen Ann

Abstract excerpt

BACKGROUND: Several rare copy number variants have been identified to confer risk for neurodevelopmental disorders (NDD-CNVs), and increasingly NDD-CNVs are being identified in patients. There is a clinical need to understand the phenotypes of NDD-CNVs. However due to rarity of NDD-CNVs in the population, within individual countries there is a limited number of NDD-CNV carriers who can participate in research....

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Identifiers

PMID: 33160096
DOI: 10.1016/j.ejmg.2020.104093

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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