News and recent publications

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. Acta haematologica oncologica Turcica.

   A Retrospective Investigation of Microsatellite Instability (MSI) Testing in a Tertiary Centre Genetic Laboratory

   Ahmet Kablan, Ömür Berna Çakmak Öksüzoğlu

   DOI

5. 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

6. Diagnostics

   ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

   Ahmet Kablan, Abdullah Sezer, Atakan Deniz, Elifcan Taşdelen, Firdevs Dinçsoy Bir, Abdulkerim Kolkıran, Melike Ataseven Kulali, Kerem Teralı, Emregül Işık

   DOI PubMed

7. 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

8. Frontiers in Medicine

   Benchmarking five large language models in medical genetics: a bilingual comparative evaluation using published and novel expert-authored questions

   Özge Beyza Gündoğdu Öğütlü, Benjamin D. Solomon, Yusuf Selman Çelik

   DOI PubMed

9. The American Journal of Human Genetics

   Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

   Lama AlAbdi, Abdullah Sezer, Fatema Alzahrani, Sebiha Cevik, Zanyar Demir, Nor Linda Abdullah, Özlem Durukan, Efe Dallı, Mais Hashem, Omar Abuyousef, Bayan Mohammed Aljamal, Rana Helaby, Mona Radwan, Amal Jaafar, Tarfa A Alshidi, Israa Salem, Halima Hamid, Bader Alhaddad, Khadijah Bakur, Elifcan Taşdelen, Mustafa Kılıç, Mohammed Al-Owain, Amal Mohammed Alhashem, Eirik Bratland, Julie Paulsen, Gunnar Houge, Anya Revah‐Politi, Kévin Uguen, Emmanuelle Masson, Séverine Audebert‐Bellanger, Talal S.A. Alanzi, Stefan T. Arold, Bora Ergin, Leena Ali Ibrahim, Oktay I. Kaplan, Fowzan Sami Alkuraya

   DOI PubMed

10. American Journal of Medical Genetics Part A

    Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia ( SEMDTSED )

    Abdullah Sezer, Mathieu Quinodoz, Bing Li, Bruce R. Korf, Francesco Michele Palazzo, Elifcan Taşdelen, Mertay Öz, Zeynep Kaptan, Amit Maniyar, Kate Chandler, Luisa Bonafé, Carlo Rivolta, Daniel H. Cohn, Andrea Superti‐Furga

    DOI PubMed

11. 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

12. Hormone Research in Paediatrics

    Clinical and Genetic Heterogeneity of Triple A Syndrome: A Multicenter Study

    Dilek Çelebi, Aslıhan Kiraz, Zakhiriddin Khojakulov, Ayse Caglar Sarilar, Müşerref Başdemirci, Elif Yılmaz Güleç, Özlem Öz, İrem Kalay, Mustafa Dogan, Bilgen Bilge Geçkinli, İpek Sahin, Mustafa Yakubi, Leyla Nur Yilmaz, Elifcan Taşdelen, Aslı Çıplaklıgil, Alper Gezdirici, Friederike Quitter, Esra Hilal Ceylan, Aydeniz Aydın Gümüş, Katrin Koehler, Abdulkerim Kolkıran, Firdevs Dinçsoy Bir, Tülay Güran, Hasan Önal, Huebner Angela, Nazlı A. Başak, Munis Dündar

    DOI PubMed

13. European Journal of Pediatrics

    Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the “Jumping SHOX” phenomenon

    Ayşe Burcu Doğan Arı, Hasan Arı, Esra Şükran Çakar, Taha Mustafa Solmaz, Elifcan Taşdelen, Gonul Buyukyilmaz, Fatih Gürbüz, Şenay Savaş Erdeve, Esra Kılıç

    DOI PubMed

14. 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

15. Akdeniz Medical Journal

    Coffin–Lowry Sendromunun Fenotipik ve Genotipik Spektrumunun Genişletilmesi: Beş Olguda Klinik, Genetik ve Dismorfik Bulgular

    Abdulkerim Kolkıran, Abdullah Sezer, Elifcan Taşdelen, Asburçe Olgaç, Ayşe Derya Buluş, Pelin Özlem Şimşek‐Kiper

    DOI

16. Zeitschrift für Geburtshilfe und Neonatologie

    Combined Oxidative Phosphorylation Deficiency 12 Spectrum in a Neonate with a Homozygous EARS2 Variant: Critical Aortic Stenosis and Refractory Supraventricular Tachycardia

    Hasan Akduman, Canan Atak, Utku Arman Örün, Haktan Bağış Erdem, Abdulkerim Kolkıran

    DOI PubMed

17. International Journal of Molecular Sciences

    Comparative Alignment of CFTR2 and CFTR-France Classifications with a Turkish Cystic Fibrosis Referral Cohort

    Mustafa Tarık Alay, Filiz Özdemir, Deniz Ağırbaşlı, Mehmet Seven, Aysel Kalaycı Yiğin

    DOI PubMed

18. 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

19. 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

20. 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

21. 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

22. Cross-cutting Clinical Genetics

    Founder Variants of the Turkish

    Kablan A

    DOI PubMed

23. Molecular Biology Reports

    Genetic spectrum and treatment implications of maturity-onset diabetes of the young in the eastern Black Sea region of Türkiye: a combined adult and pediatric cohort of 296 patients with identification of rare and novel variants

    Çağrı Doğan, Burak Andaç, Mehtap Navdar Başaran, Yasemin Günay, Mustafa Tarık Alay, Aysel Kalaycı Yiğin

    DOI PubMed

24. 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

25. 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

26. International Journal of Molecular Sciences

    HBOCpred: An Ensemble Framework for Prioritisation of Germline Missense Variants in Hereditary Breast and Ovarian Cancer

    Mustafa Tarık Alay, Haktan Bağış Erdem

    DOI

27. Acta haematologica oncologica Turcica.

    Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

    Abdulkerim Kolkıran, Melike Ataseven Kulali, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule YEŞİL, Gürses Şahin

    DOI

28. 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

29. Experimental and Therapeutic Medicine

    Identification of a novel KISS1R ( GPR54 ) gene variant (c.505+2T>G) in a patient with congenital hypogonadotropic hypogonadism: A case report and literature review

    Burak Menekşe, Enes Üçgül, Abdüllatif Bakır, Sema Hepşen, İlknur Öztürk Ünsal, Muhammed Kızılgül, Takako Araki, Erman Çakal

    DOI PubMed

30. Rare Disease Genetics Life

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

    Alay MT; Deniz A; Saat H; Erdem HB

    DOI PubMed

31. Cytogenetic and Genome Research

    Integrating Optical Genome Mapping into the Genetic Diagnostic Algorithm: Clinical Utility in Unresolved Autosomal Recessive Disorders from a Large Cohort

    Özge Beyza Gündoğdu Öğütlü, Hasan Hüseyin Kazan, Mehmet Burak Mutlu, Mehmet Ali Ergün, Sengul Özdek, Gülsüm Kayhan

    DOI PubMed

32. Lara D. Veeken

    Lipoid proteinosis mimicking Sjögren’s syndrome: a diagnostic challenge in rheumatology practice

    Mehmet Akif Baltaci, Elifcan Taşdelen, Gökhan Toptaş, Melih Pamukçu, Esin Kurtuluş Öztürk, Özlem Özmen, Murat Alper, Ertuğrul Çağrı Bölek

    DOI PubMed

33. Molecular Syndromology

    Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant

    Abdulkerim Kolkıran, Firdevs Dinçsoy Bir, Bilgesu Arıkan Ergün, Alişan Daylak, Mehmet Çıtırık, Melike Ataseven Kulali

    DOI PubMed

34. 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

35. 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

36. 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

37. 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

38. 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

39. 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

40. Hormone Research in Paediatrics

    Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients

    Abdulkerim Kolkıran, Melike Ataseven Kulali, Tuğba Daşar, Abdullah Sezer, Melikşah Keskın, Senay Savas-Erdeve, Erdal Kurnaz, Elifcan Taşdelen, Mustafa Tarık Alay, Berna Uçan, Mehmet Can Pence, Muhammed Erkan Emrahoğlu, Ahmet Kablan, Firdevs Dinçsoy Bir, Hanife Saat, Ayşe Derya Buluş, Nihan Solmaz

    DOI PubMed

41. Gazi Medical Journal

    Spectrum of CYP21A2 Variants: A Retrospective Single-center Study from a Tertiary Healthcare Center in Türkiye

    Ahmet Kablan, Furkan Baştan, Aysu Yeşim Tezcan, Asuman Bölükbaşı, Şenay Savaş Erdeve, Haktan Bağış Erdem

    DOI

42. 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

43. BMC Pediatrics

    The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation

    Çağrı DOĞAN, Mehmet Burak Mutlu, Ali Cansu, Esra Habiloğlu, Murat Öztürk, Uğur Gümüş, Abdullah İhsan GÜRLER, Bahtiyar Şahinoğlu, Hamdi KALE, Mustafa Tarık Alay, Abdullah Sezer, Aysel Kalaycı Yiğin, Elif Yılmaz Güleç, Süheyla Emre, Hamza Polat, Zehra Manav Yiğit, Hilmi Bolat, Zeynep Esener, Dilan Genç, Gül Ünsel‐Bolat, Ayberk Türkyılmaz, Akif Ayaz, Abdulkerim Kolkıran, Ahmet Cevdet Ceylan, Taha Mustafa Solmaz, Yusuf Bahap, Neslihan Cinkara, Sümeyra Oğuz, Elif Uzay, Safiye Güneş Sağer, Alper Han Çebi, Oguzhan Demir, Ezgi Susam, İrem Kalay

    DOI PubMed

44. Journal of Thrombosis and Thrombolysis

    Thrombotic and hemorrhagic complications in NPM1-mutated AML: Association with APL-like immunophenotype and impact on early mortality

    Esen Savaş, Lale Aydın Kaynar, Selin Küçükyurt, Hacer Berna Afacan Öztürk, Şahika Zeynep Akı, Murat Albayrak, Merih Kızıl Çakar, Aytek Peker, Haktan Bağış Erdem, Canan Topçuoğlu, Jale Yıldız, Asena Dikyar, Uğur Kalan, Ahmet Kürşad Güneş

    DOI PubMed

45. 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

46. Genel Tıp Dergisi

    West Syndrome Associated with a CLTC Gene Variant: A Case Report on Auditory Perception and Language Development

    Esma Çağal Karabulut, Özge Çağlar, Selma Yılar, Turgay Çokyaman, Beyza Akti, Ahmet Kablan, Kübra Müge Çelik, Ozge Ozcan, Fatma Sılan

    DOI

47. Molecular Syndromology

    When the Clinical Picture Demands More: Dual Diagnosis of Neurofibromatosis Type 1 and Auriculocondylar Syndrome 2A in a Pediatric Case

    Abdulkerim Kolkıran, Firdevs Dinçsoy Bir, Melike Ataseven Kulali, Hasibe Gökçe Çınar, Göknur Topaloğlu Yasan, Hakan Hıfzı Tüz, Mehmet Çıtırık, Hale SANDIKÇI İSKENDERLİ, Ergin Atasoy

    DOI PubMed

48. Molecular Syndromology

    Xp;Yq Unbalanced Translocation in an Infertile Female: A Case Report

    Ahmet Kablan

    DOI PubMed

33 records from 2025