Work

Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy—DEE94

Year: 2026

Type: article

Study design: Case Report

Source: Neuropediatrics

DOI: 10.1055/a-2856-1470

Authors: Robin Wijngaard, Pinelopi Dragoumi, Machteld M. Oud, Saskia B. Wortmann, Kornelia Neveling, Ronald van Beek, Guillaume van de Zande, Ron A. Wevers, Dimitrios Zafeiriou

Institutions: Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Aristotle University of Thessaloniki, Ippokrateio General Hospital of Thessaloniki, Paracelsus Medical University

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7160648284

FWCI:

Cites: 16

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