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Article

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.

Brain : a journal of neurology - 1 Apr 2020

López-Rivera Javier A, Pérez-Palma Eduardo, Symonds Joseph, Lindy Amanda S, McKnight Dianalee A, Leu Costin, Zuberi Sameer, Brunklaus Andreas, Møller Rikke S, Lal Dennis

Abstract excerpt

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-scale genomic screens. Yet, knowledge of disease incidence is important for clinicians and researchers to guide health...

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PMID: 32168371
DOI: 10.1093/brain/awaa051
PMCID: PMC7174049

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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