Yayınlar & Eserler

Yayın Ağı
Makaleler 26
Tümü (26)
SCI-E, SSCI, AHCI (16)
SCI-E, SSCI, AHCI, ESCI (26)
ESCI (10)
Scopus (24)
TRDizin (5)

1. Monoallelic germline RAD51C, RAD51D, and BRIP1 variants in hereditary cancer testing: Variant spectrum and clinical counselling implications

Ozdemir-Pehlivan Z., Buke A., Cevik-Demir E., SAAT H., Bahsi T., Yildirim O. A., et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS , cilt.833, 2026 (SCI-Expanded, Scopus)

2. Integrated Clinical, Molecular, and Machine Learning Assessment of Familial Hypercholesterolemia

Alay M. T., Deniz A., Saat H., Erdem H. B.
LIFE-BASEL , cilt.16, sa.4, 2026 (SCI-Expanded, Scopus)

3. A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy

Sezer A., Buke A., Kazan H. H., Kablan A., Alay M. T., TALİM B., et al.
CLINICAL GENETICS , cilt.109, sa.2, ss.294-304, 2026 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

4. Decoding Genomic Variants in a Turkish Cohort of Patients with Spasticity

Bakir A., Saat H., Erdem H. B., Sezer A., Tasdelen E., Bir F. D., et al.
BRATISLAVA MEDICAL JOURNAL , cilt.126, sa.10, ss.2688-2697, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

5. A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia

Sezer A., Oner S. S., Saat H., Turan M. G., Gungor T., Cevik S., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.33, sa.10, ss.1240-1251, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

6. Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye

Kablan A., Sezer A., Bakir A., Tasdelen E., Bir F. D., Erdem H. B., et al.
CLINICAL GENETICS , cilt.108, sa.3, ss.240-258, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

7. The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification

Bakir A., Alay M. T., Tekbas U. C., Sucu S., Kalay I., Saat H.
DIAGNOSTICS , cilt.15, sa.17, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

8. Evaluation of Mutation Profiles of Cardiomyopathy Patients in the Turkish Cohort

Bakir A., Saat H., Erdem H. B., Tolunay H., Kazan H. H.
BRATISLAVA MEDICAL JOURNAL , cilt.126, sa.5, ss.811-817, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. A Rare Co-occurence of Acromegaly and Attenuated Familial Adenomatous Polyposis in a Young Patient: A Case Report and Review of Colonoscopy Screening Recommendations in Acromegaly

Durantas H., Hepsen S., Boz O., Saat H., Erdal H., Cakal E.
ENDOCRINOLOGY RESEARCH AND PRACTICE , cilt.29, sa.1, 2025 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma

10. Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report

Kablan A., Sezer A., Bakir A., Kolkiran A., Saat H.
MOLECULAR SYNDROMOLOGY , ss.1-9, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

11. Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics

Helvaci B. C., Saat H., Hepsen S., HELVACI Ö., Cakal E.
ENDOCRINOLOGY RESEARCH AND PRACTICE , cilt.28, sa.4, ss.236-239, 2024 (ESCI, TRDizin)

12. Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations

Sahin I., Erdem H. B., Bahsi T., Saat H.
CUREUS JOURNAL OF MEDICAL SCIENCE , cilt.16, sa.2, 2024 (ESCI) Sürdürülebilir Kalkınma

13. Expanding the genotype-phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers

Sahin I., Kandemir N., Saat H.
EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS , cilt.24, sa.1, 2023 (ESCI, Scopus) Sürdürülebilir Kalkınma

14. Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations

BİLGİNER M. C., AYDIN C., Faki S., TOPALOĞLU O., Saat H., Cavdarli B., et al.
ENDOCRINOLOGY RESEARCH AND PRACTICE , cilt.27, sa.2, ss.71-77, 2023 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma

15. Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations

Sahin I., Saat H.
ACTA NEUROLOGICA BELGICA , cilt.122, sa.6, ss.1529-1535, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

16. Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy

Saat H., Şahin İ., Erdem H. B., Özgür S., Tokgöz S., Bahsi T.
Anatolian Journal of Cardiology , cilt.26, sa.6, ss.460-465, 2022 (SCI-Expanded, Scopus, TRDizin)

17. Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations

Saat H., Sahin I., Duzkale N., Gonul M., Bahsi T.
MEDENIYET MEDICAL JOURNAL , cilt.37, sa.2, ss.126-130, 2022 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma

18. New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability

Sahin I., Saat H.
GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.26, sa.1, ss.17-25, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

19. Non-Invasive Cancer Genotyping: A Single-Center Experience on the Challenges, Limitations, and Methods

Sahin I., Saat H., Erdem H. B., Bahsi T.
GAZI MEDICAL JOURNAL , cilt.33, sa.2, ss.146-150, 2022 (ESCI, Scopus) Sürdürülebilir Kalkınma

20. Liquid biopsy: Novel perspectives on the importance and spectrum of PIK3CA, PTEN and RET mutations in solid tumors

Sahin I., Saat H., AKSOY S., DİZDAR Ö., Erdem H. B., Bahsi T.
MOLECULAR AND CLINICAL ONCOLOGY , cilt.16, sa.1, 2022 (ESCI, Scopus) Sürdürülebilir Kalkınma

21. Investigation of Submicroscopic Chromosomal Anomalies on Patients with Unexplained Intellectual Disabilities with Molecular Karyotyping

SAAT H., ERGÜN M. A., Pergin E. F.
GAZI MEDICAL JOURNAL , cilt.33, sa.4, ss.375-380, 2022 (ESCI, Scopus) Creative Commons License Sürdürülebilir Kalkınma

22. Mutation spectrum of hereditary myopathies in Turkish patients and novel variants

Saat H., Sahin I.
ANNALS OF HUMAN GENETICS , cilt.85, sa.5, ss.178-185, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

23. A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2

Sahin I., Saat H.
MOLECULAR BIOLOGY REPORTS , cilt.48, sa.6, ss.5057-5062, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

24. Neurofibromatosis Type 1 Molecular Diagnosis in Turkish Patients

Bahsi T., Saat H.
GAZI MEDICAL JOURNAL , cilt.31, sa.3, ss.406-409, 2020 (ESCI, Scopus) Sürdürülebilir Kalkınma

25. Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population

Hepsen S., Cakal E., Karakose M., Eyerci N., Saat H., Beysel S., et al.
GYNECOLOGICAL ENDOCRINOLOGY , cilt.35, sa.8, ss.685-690, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

26. Confirmation of the prenatal mosaic trisomy 2 via fetal USG and cytogenetic analyses

Tuğ E., Karcaaltincaba D., Yirmibeş Karaoğuz M., Saat H., Ozek A.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE , cilt.30, sa.13, ss.1579-1583, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 4

1. Molecular Characterization of NF1 Gene in a Small Turkish Population with Neurofibromatosis Type 1 and a Novel Mutation

PINARLI F. G., Alpaslan Pınarlı F., Saat H., Yıldırımoğlu C., OKUR A., KARADENİZ C.
49th Congress of the International Society of Paediatric Oncology (SIOP), 12 - 15 Ekim 2017, cilt.64, ss.310-311, (Özet Bildiri)

2. Primer amenoreli olguda array CGH yöntemi ile parsiyel Xp duplikasyonu ve Xq delesyonu saptanması

Saat H., Kayhan G., Ergün M. A., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics, Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.131, (Özet Bildiri) Creative Commons License

3. Sebebi açıklanamayan mental retardasyonlu ve veya dismorfik hastalarda array CGH yöntemi ile submikroskobik kromozomal değişikliklerin araştırılması

Saat H., Ergün M. A., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.258, (Özet Bildiri) Creative Commons License

4. Confirmation of the Prenatal Mosaic Trisomy 2 via Fetal USG and Cytogenetic Analyses.

TUĞ E., KARÇAALTINCABA D., YİRMİBEŞ KARAOĞUZ M., SAAT H., ÖZEK M. A.
Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik Uygulamaları Kongresi, Kayseri, Türkiye, 11 - 13 Mayıs 2016, cilt.38, ss.36, (Tam Metin Bildiri)
Metrikler

Yayın

30

Yayın (WoS)

26

Yayın (Scopus)

24

Atıf (WoS)

33

H-İndeks (WoS)

3

Atıf (Scopus)

38

H-İndeks (Scopus)

3

Atıf (Diğer Toplam)

1

Proje

1

Açık Erişim

1
BM Sürdürülebilir Kalkınma Amaçları
SDG 3: AMAÇ 3: SAĞLIKLI BİREYLER
SDG 5: AMAÇ 5: CİNSİYET EŞİTLİĞİ