Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing
Our findings reinforce that no single gene or variant is responsible for the majority of CDH cases, and also demonstrated the effectiveness of WES in identifying novel candidate genes and variants that contribute to CDH etiology.
Authors
- Tuğba Saraç Sivrikoz (ORCID: https://orcid.org/0000-0001-5482-9429)
- Cagri Gulec
- Umut Altunoğlu
- Seher Basaran
- Gozde Tutku Turgut
- G. Somayyeh Heidargholizadeh
- Zehra Oya Uyguner
- Birsen Karaman
Institutions
- Koç University (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Pediatrics International
- Published
- 2025-12-27
- DOI
- https://doi.org/10.1111/ped.70298
- Primary Topic
- Congenital Diaphragmatic Hernia Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00