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Article

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.

Human genetics - 1 Aug 2023

Safizadeh Shabestari Seyed Ali, Nassir Nasna, Sopariwala Samana, Karimov Islam, Tambi Richa, Zehra Binte, Kosaji Noor, Akter Hosneara, Berdiev Bakhrom K, Uddin Mohammed

Abstract excerpt

Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders with complex etiology. In this study, we investigated the less understood genomic overlap of copy number variants (CNVs) in two large cohorts of NDD and CA patients to identify de novo CNVs and candidate genes associated with both phenotypes. We analyzed clinical microarray CNV data from 10,620 NDD and 3176 CA cases annotated...

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Identifiers

PMID: 36383254
DOI: 10.1007/s00439-022-02482-5
PMCID: PMC10449996

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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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