Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship
The prevalence of pathogenic variants in target genes associated with CMP is important for our current country's population, and multiple gene groups associated with CMP can be screened through NGS. The contribution rate to the clinical diagnosis was 18.44% in terms of the individual population who applied to our medical genetics center and were compatible with the CMP indication.
Authors
- Hanefi Yekta Gürlertop
- Hakan Gürkan (ORCID: https://orcid.org/0000-0002-8967-6124)
- Emine İkbal Atlı (ORCID: https://orcid.org/0000-0001-9003-1449)
- Hazal Sezginer Guler
- Murat Devecí (ORCID: https://orcid.org/0000-0001-6246-671X)
- Drenushe Zhuri̇ (ORCID: https://orcid.org/0000-0002-8370-1990)
- Sinem Yalçıntepe (ORCID: https://orcid.org/0000-0002-8557-8885)
- Servet Altay (ORCID: https://orcid.org/0000-0001-7112-3970)
- Selma Demır (ORCID: https://orcid.org/0000-0002-0964-5513)
- Engin Atli
Institutions
- Trakya University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-26
- DOI
- https://doi.org/10.1159/000542097
- Citations
- 1
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.40