Department of Medical Genetics Ankara Etlik City Hospital
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News and recent publications

Departmental announcements, and the most recent records entered into the publication database.

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Recent publications

Full database

Records with a canonical publication year of 2026. Generated directly from the publication database; no editorial text is added.

  1. Rare Disease Genetics Journal of Pediatric Endocrinology and Metabolism

    A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome

    Sayar E; Altas GG; Sezer A; Kolkiran A; Ucan B; Olgac A

    DOI PubMed

  2. Rare Disease Genetics Journal of Pediatric Endocrinology and Metabolism

    A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder

    Kılıç M; İcil S; Sayar E; Doğan S; Gökçe-Altaş G; Güler E; Sezer A

    DOI PubMed

  3. Rare Disease Genetics Clinical Genetics

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

    Sezer A; Büke A; Kazan HH; Kablan A; Alay MT; Talim B; Yüksel D; Saat H

    DOI PubMed

  4. Rare Disease Genetics American Journal of Medical Genetics Part A

    ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey

    Kolkıran A; Sarıkaya Özdemir B; Sezer A; Kulalı MA; Daşar T; Savaş Erdeve Ş; Alay MT; Uçan B; Kablan A; Taşdelen E; Dinçsoy Bir F; et al.

    DOI PubMed

  5. Rare Disease Genetics American Journal of Medical Genetics Part A

    Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort

    Taşdelen E; Tekbaş UC; Kolkıran A; Çetinkaya S; Kılıç M; Sezer A

    DOI PubMed

  6. Rare Disease Genetics Journal of Human Genetics

    Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort

    Doğan Ç et al.; includes Mustafa Tarık Alay

    DOI PubMed

  7. Rare Disease Genetics Dicle Medical Journal

    Clinical and Molecular Spectrum of PIK3CA-Related Overgrowth Syndrome: A Turkish Cohort

    Taşdelen E; Sennaroğlu S; Kolkıran A; Kulalı MA; Kaplan İ; Alay MT; Yeşil Ş

    DOI

  8. Cancer Genetics Acta Medica

    Comparative prognostic performance of ELN 2022 and ELN 2024 risk classifications in a Turkish cohort of acute myeloid leukemia patients receiving hypomethylating agents and BCL-2 inhibitors

    Etlik Hematology team; includes Erdem HB

    DOI

  9. Rare Disease Genetics The Eurasian Journal of Medicine

    Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases

    Kablan A; Sezer A; Bakır A; Güneş AK; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Erdal H; Alay MT; Coşkun Y

    DOI PubMed

  10. Rare Disease Genetics Acta Neurologica Belgica

    Efficacy of risperidone and behavioral delineation in METTL5-related syndrome: a pooled analysis of literature and report of a novel variant

    Gündoğdu Öğütlü ÖB; Baştan F; Sever Erdem Z; Öğütlü H; Erdem HB

    DOI PubMed

  11. Rare Disease Genetics European Journal of Pediatrics

    Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases

    Kolkıran A; Kulalı MA; Daşar T; Kablan A; Taşdelen E; Atay G; Sarıkaya Özdemir B; Savaş Erdeve Ş

    DOI PubMed

  12. Cross-cutting Clinical Genetics

    Founder Variants of the Turkish

    Kablan A

    DOI PubMed

  13. Rare Disease Genetics Molecular Syndromology

    Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance

    Kılıç M; Sayar E; İcil S; Sezer A

    DOI PubMed

  14. Rare Disease Genetics Molecular Syndromology

    Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome

    İcil S; Kılıç M; Sayar E; Sezer A

    DOI PubMed

  15. Rare Disease Genetics Pediatric Allergy, Immunology, and Pulmonology

    Homozygous DIAPH1 Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin Lymphoma

    Özlem A; Şirin S; İpek Demir K; Kolkıran A; Kablan A; Ulusoy Severcan E; Akelma Z

    DOI PubMed

  16. Rare Disease Genetics Life

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

    Alay MT; Deniz A; Saat H; Erdem HB

    DOI PubMed

  17. Cancer Genetics Mutation Research

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

    Özdemir-Pehlivan Z; Büke A; Çevik-Demir E; Saat H; Bahsi T; Yıldırım ÖA; Erdem HB

    DOI PubMed

  18. Cancer Genetics Familial Cancer

    Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort

    Ertürkmen Aru E; Büke A; Saat H; Bahsi T; Sezer A; Erdem HB

    DOI PubMed

  19. Rare Disease Genetics The Turkish Journal of Pediatrics

    Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye

    Kablan A; Bakır A; Taşdelen E; Dinçsoy Bir F; Kolkıran A; Kulalı MA; Atasoy E; Menderes D; Efe A; Kılıç M; Erdal İ

    DOI PubMed

  20. Cancer Genetics Journal of Clinical Medicine

    Prognostic Impact of Serum Albumin Levels at Diagnosis in Patients with Chronic Lymphocytic Leukemia

    Küçükyurt Kaya S; Afacan Öztürk HB; Koca O; Aydın Kaynar L; Gördük U; Dikyar A; Erdem HB; Acar K; Albayrak M; Güneş AK

    DOI PubMed

  21. Cancer Genetics Oncology Letters

    PRR11 expression in early ER+/HER2-low breast cancer: Association with estrogen receptor positivity and exploratory analysis of prognostic significance

    Turkel A; Dogan M; Irkkan SC; Erdem HB; Bozdogan N; Bahsi T

    DOI PubMed

  22. Rare Disease Genetics Pediatric Dermatology

    Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations

    Tas-Aygar G; Gönül M; Yayla ENS; Erdem HB; Kartal SP

    DOI PubMed

  23. Rare Disease Genetics Neurological Sciences

    Spinocerebellar Ataxia Type 40 Presenting with Isolated Cervical Dystonia: Expanding the Phenotypic Spectrum

    Onder H; Erdem HB; Ceylaner S; Comoglu S

    DOI PubMed

  24. Cancer Genetics Oncology Letters

    Unveiling Mitochondrial DNA Copy Number Alterations: Insights into Progression from Cervical Intraepithelial Neoplasia to Cervical Cancer

    Ozgurluk I; Erdem HB; Alay MT; Oktar O; Sahin-Duran F; Cevik-Demir E; Tezcan AY; Keskin HL

    DOI PubMed

32 records from 2025