Work

Deep intronic NIPBL variants underlie unresolved Cornelia de Lange syndrome revealed by integrated epigenomic and transcriptomic analysis

Year: 2026

Type: article

Source: European Journal of Human Genetics

DOI: 10.1038/s41431-026-02259-8

Authors: Sophie Rondeau, Céline Huber, Jennifer Kerkhof, Bekim Sadikovic, Valérie Cormier-Daire

Institutions: Hôpital Necker-Enfants Malades, Inserm, Université Paris Cité, Institut des Maladies Génétiques Imagine, London Health Sciences Centre, Western University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7222923679

FWCI:

Cites: 19

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Related to: 10