Yok EYLÜL AYDIN

Yayın Ağı

Makaleler 9

1. **Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report**

AYDIN E., BULUT A. Ş., Yildiz B., Ozonur U., ÖZDEMİR Ö., BİLGÜVAR K., et al.

JOURNAL OF CHILD NEUROLOGY , 2026 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

2. **A Novel Variant in GNB2 as a Cause of Sick Sinus Syndrome**

BULUT A. Ş., Saygili E. A., Pirli D., AYDIN E., ÖZDEMİR Ö., Balci N., et al.

CIRCULATION RESEARCH , cilt.137, sa.SUPPL_1, 2025 (SCI-Expanded, Scopus)

3. Genetic heterogeneity in childhood leukemia/lymphoma: a Turkish cohort with strong predisposition

ÖNDER G., ÖZDEMİR Ö., Taylan F., CANPOLAT C., Yalcin K., Erbey F., et al.

Frontiers in Genetics , cilt.16, 2025 (SCI-Expanded, Scopus)

4. Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders

AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.

EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1172, 2024 (SCI-Expanded, Scopus)

5. Impact of deep phenotyping: High diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

AKGÜN DOĞAN Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.32, ss.1560, 2024 (SCI-Expanded, Scopus)

6. Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders

AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.32, ss.1172, 2024 (SCI-Expanded, Scopus)

7. **Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Turkiye**

ÖZDEMİR Ö., Bychkovsky B. L., Unal B., ÖNDER G., Amanvermez U., AYDIN E., et al.

CANCERS , cilt.16, sa.22, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

8. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

Guner Yilmaz B., Akgun-Dogan Ö., Ozdemir Ö., Yuksel B., Hatirnaz Ng Ö., Bilguvar K., et al.

FRONTIERS IN PEDIATRICS , cilt.12, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Akgün Doğan Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.

FRONTIERS IN GENETICS , cilt.15, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 4

1. Spatial Transcriptomics Explores Potential Epileptogenic Cell Populations in Absence Epilepsy

AYDIN E., Sevinc-Ozdemir N., Ozdemir S., EKEN Y., AKKUŞ A., MUTLU N., et al.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, ss.463, (Özet Bildiri)

2. UDP-IST: First Undiagnosed Disease Program in Istanbul - Insights from Early Outcomes

AKGÜN DOĞAN Ö., ÖZDEMİR Ö., Ozkose-Iyigel G. S., BULUT A., AYDIN E., Gunay H., et al.

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, İtalya, 24 - 27 Mayıs 2025, cilt.33, ss.919-920, (Özet Bildiri)

3. Integrating Standardized Biobanking into Rare Disease Research: Insights from the ACURARE Biobank

Şahim İ., ANTMEN F. M., Erdoğan C., Onder G., Özköse İyigel G. Ş., Yılmaz J. C., et al.

Europe Biobank Week Congress, Bologna, İtalya, 13 - 16 Mayıs 2025, (Özet Bildiri)

4. Statistical Analysis of Genomic in-silico Pathogenicity Predictors

Aydin E., Ergun B., HATIRNAZ NG Ö., ÖZDEMİR Ö.

56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.652, (Özet Bildiri)

Metrikler

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Yayın (WoS)

Yayın (Scopus)

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H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

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