Yayınlar & Eserler

Yayın Ağı
Makaleler 18
Tümü (18)
SCI-E, SSCI, AHCI (13)
SCI-E, SSCI, AHCI, ESCI (17)
ESCI (4)
Scopus (18)
TRDizin (3)

1. Same mutation, different disease: intrafamilial clinical and radiological diversity in HPRT1-related gout—the first family series from Türkiye

Bilici R., DUYMUŞ F., Atas A. E., ÇELİKDELEN S. Ö.
Clinical Rheumatology , cilt.45, sa.9, ss.5769-5776, 2026 (SCI-Expanded, Scopus)

2. Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort

Kocak Eker H., Akın Duman T., DUYMUŞ F., Basdemirci M., Eser Cavdartepe B., Çiftci N., et al.
Clinical Genetics , cilt.110, sa.1, ss.36-45, 2026 (SCI-Expanded, Scopus)

3. Familial Hyperekplexia Caused by a Novel Homozygous SLC6A5 Variant: A Case Report

YILMAZ F. H., Kahraman A. B., DUYMUŞ F., Koçak Eker H., Çelik H., Büyükeren M., et al.
Molecular Syndromology , cilt.17, sa.3, ss.271-275, 2026 (SCI-Expanded, Scopus)

4. The Association of FMR1 Gene Low-Normal and High-Normal Alleles with Ovarian Dysfunctions: A Retrospective Analysis from the Turkish Population

Kocak Eker H., Simsek L., Eser Cavdartepe B., Balasar O., Basdemirci M., Tuncez E., et al.
Acta Cytologica , ss.1-7, 2026 (SCI-Expanded, Scopus)

5. Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders

Mutlu M. B., Öğütlü Ö. B. G., Öz Ö., DUYMUŞ F., Seyhan S., Tokaç A. G. B., et al.
Human Mutation , cilt.2026, sa.1, 2026 (SCI-Expanded, Scopus)

6. Fetal Aberrant Right Subclavian Artery: A Retrospective Evaluation of Prenatal Findings and Postnatal Prognosis Fetal Aberran Sağ Subklavyen Arter: Prenatal Bulguların ve Postnatal Prognozun Retrospektif Değerlendirmesi

Bozbay N., Duymuş A. C., DUYMUŞ F., Savaş F., Pekin A. T., Örgül G.
Genel Tip Dergisi , cilt.36, sa.2026, 2026 (Scopus, TRDizin)

7. ASPM-Related Primary Microcephaly Presenting with Severe Gyral Simplification and Cerebellar Hypoplasia: A Case Report

Gülen A., DUYMUŞ F., Gönen H. N., İzgi G. N., Coşkun H.
Acta Cytologica , ss.1, 2026 (SCI-Expanded, Scopus)

8. Multimodal imaging of the autosomal recessive spastic ataxia of Charlevoix-Saguenay phenotype

Biçimveren M. S., Baytaroğlu A., Gülen A., DUYMUŞ F.
Turk Noroloji Dergisi , cilt.32, sa.2, ss.191-197, 2026 (ESCI, Scopus) Creative Commons License

9. Characterization of FMR1 CGG Repeat Structure and AGG Interruption Patterns in Turkish and Syrian Individuals Türk ve Suriyeli Bireylerde FMR1 CGG Tekrar Yapısı ve AGG Kesinti Paternlerinin Karakterizasyonu

Eker H. K., Kara S., DUYMUŞ F., Çavdartepe B. E., Tuncez E., Balasar Ö., et al.
Gazi Medical Journal , cilt.37, sa.3, ss.369-375, 2026 (ESCI, Scopus, TRDizin) Creative Commons License

10. High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene

Başdemirci M., Balasar Ö., Bulut O., Tunçez E., DUYMUŞ F., Eser Çavdartepe B., et al.
Molecular Syndromology , cilt.16, sa.4, ss.311-319, 2025 (SCI-Expanded, Scopus)

11. Influence of the IDOL Gene Variants on Low-Density Lipoprotein Cholesterol Levels in Turkish Patients with Familial Hypercholesterolemia

DUYMUŞ F., Kocak N., Özdemir E. M., Esin D., Körez M. K., Cora T.
Molecular Syndromology , cilt.16, sa.2, ss.128-137, 2025 (SCI-Expanded, Scopus)

12. Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey

Balasar Ö., Kadıoğlu Yılmaz B., Başdemirci M., Koçak Eker H., Eser Çavdartepe B., Şimşek L., et al.
Biochemical Genetics , cilt.63, sa.1, ss.896-905, 2025 (SCI-Expanded, Scopus)

13. Utility of Optical Genome Mapping in Repeat Disorders

Mutlu M. B., Karakaya T., Çelebi H. B. G., DUYMUŞ F., Seyhan S., Yılmaz S., et al.
Clinical Genetics , cilt.107, sa.2, ss.188-195, 2025 (SCI-Expanded, Scopus)

14. Are decreased cocaine- and amphetamine regulated transcript and Agouti- related peptide levels associated Eating behavior in medication-free children with attention deficit and hyperactivity disorder?

Tezcan M. E., UĞUR C., Can Ü., Uçak E. F., Ekici F., DUYMUŞ F., et al.
Progress in Neuro-Psychopharmacology and Biological Psychiatry , cilt.129, 2024 (SCI-Expanded, Scopus)

15. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Accogli A., Zaki M. S., Al-Owain M., Otaif M. Y., Jackson A., Argilli E., et al.
Brain Communications , cilt.5, sa.5, 2023 (ESCI, Scopus)

16. A novel double hemizygous BTK mutation in a boy presenting with Pseudomonas skin abscesses

GÜLER T., Emiroglu M., DUYMUŞ F., Marzioglu Ozdemir E., Artac H.
Clinical and Experimental Dermatology , cilt.47, sa.6, ss.1218-1221, 2022 (SCI-Expanded, Scopus)

17. Relationship of endoplasmic reticulum stress with the etiopathogenesis of chronic tonsillitis and tonsillar hypertrophy in pediatric patients: a prospective, parallel-group study

Onal M., Kocak N., DUYMUŞ F., Bozkurt M. K., Elsurer C., Erdur O., et al.
Molecular Biology Reports , cilt.48, sa.7, ss.5579-5586, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

18. SYNGAP1 mutation in a pediatric patient with autism spectrum disorder and intellectual disability

Tezcan M. E., Cetin F. H., DUYMUŞ F., Cora T., Turkoglu S.
Dusunen Adam - The Journal of Psychiatry and Neurological Sciences , cilt.33, sa.4, ss.433-436, 2020 (ESCI, Scopus, TRDizin) Creative Commons License
Kitaplar 1

1. Biomarkers for Predicting Immunotherapy Efficacy

DUYMUŞ F., BAHSİ T.
Current Immunotherapy Landscape for Solid Tumors, ŞENDUR MEHMET ALİ NAHİT, Editör, Turkiye Klinikleri, ss.5-11, 2024
Metrikler

Yayın

19

Yayın (WoS)

17

Yayın (Scopus)

18

H-İndeks (WoS)

4

Atıf (Scopus)

22

H-İndeks (Scopus)

3

Açık Erişim

3
BM Sürdürülebilir Kalkınma Amaçları
SDG 3: AMAÇ 3: SAĞLIKLI BİREYLER