Work

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies

Year: 2026

Type: article

Study design: Observational Study

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2026-111485

Authors: Sanem Yilmaz, Enise Avci Durmusalioglu, Dilara Ece Toprak Dogan, Seda Kanmaz, Tahir Atik, Mehmet Burak Mutlu, Uluç Yiş, Unsal Yilmaz, Aycan Unalp, Sarenur Gökben, Hasan Baş, Arman Rostamlou, Nur Selvi Gunel, Cumhur Gunduz, Hasan Tekgul, Esra Isik

Institutions: Ege University, Dokuz Eylül University, Sağlık Bilimleri Üniversitesi, Intergen (Turkey)

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

Funder: Türkiye Bilimsel ve Teknolojik Araştırma Kurumu

Award: G4477702156

OpenAlex ID: W7154591604

FWCI:

Cites: 40

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