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Recent publications

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

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
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
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
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
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
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
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
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
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
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
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
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
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
Cross-cutting Clinical Genetics

Founder Variants of the Turkish

Kablan A

DOI PubMed
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
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
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
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
Rare Disease Genetics Life

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

Alay MT; Deniz A; Saat H; Erdem HB

DOI PubMed
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
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
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
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
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
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
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
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
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
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
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

Departmental announcements

Recent publications

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

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

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

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

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

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

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

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

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

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

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

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

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

Founder Variants of the Turkish

Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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