Publication database

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

Journal of Pediatric Endocrinology and Metabolism · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Journal of Pediatric Endocrinology and Metabolism · 2026

DOI PubMed

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

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

Clinical Genetics · 2026

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

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

Ahmet Kablan, Ömür Berna Çakmak Öksüzoğlu

Acta haematologica oncologica Turcica. · 2026

DOI

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.

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

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

Diagnostics · 2026

DOI PubMed

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

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Frontiers in Medicine · 2026

DOI PubMed

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

The American Journal of Human Genetics · 2026

DOI PubMed

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

American Journal of Medical Genetics Part A · 2026

DOI PubMed

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

Journal of Human Genetics · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Hormone Research in Paediatrics · 2026

DOI PubMed

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

European Journal of Pediatrics · 2026

DOI PubMed

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

Dicle Medical Journal · 2026

DOI

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Akdeniz Medical Journal · 2026

DOI

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

Zeitschrift für Geburtshilfe und Neonatologie · 2026

DOI PubMed

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

International Journal of Molecular Sciences · 2026

DOI PubMed

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

Acta Medica · 2026

DOI

Cancer Genetics Hematologic Malignancy Genomics

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

The Eurasian Journal of Medicine · 2026

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

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

Acta Neurologica Belgica · 2026

DOI PubMed

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

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

European Journal of Pediatrics · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Founder Variants of the Turkish

Kablan A

Clinical Genetics · 2026

DOI PubMed

Cross-cutting Variant Interpretation & Population Genomics

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

Molecular Biology Reports · 2026

DOI PubMed

Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance

Kılıç M; Sayar E; İcil S; Sezer A

Molecular Syndromology · 2026

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

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

İcil S; Kılıç M; Sayar E; Sezer A

Molecular Syndromology · 2026

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

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

Mustafa Tarık Alay, Haktan Bağış Erdem

International Journal of Molecular Sciences · 2026

DOI

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

Acta haematologica oncologica Turcica. · 2026

DOI

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

Pediatric Allergy, Immunology, and Pulmonology · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Experimental and Therapeutic Medicine · 2026

DOI PubMed

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

Alay MT; Deniz A; Saat H; Erdem HB

Life · 2026

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

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

Cytogenetic and Genome Research · 2026

DOI PubMed

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

Lara D. Veeken · 2026

DOI PubMed

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

Molecular Syndromology · 2026

DOI PubMed

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

Mutation Research · 2026

DOI PubMed

Cancer Genetics Hereditary Cancer & Cancer Predisposition

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

Familial Cancer · 2026

DOI PubMed

Cancer Genetics Hereditary Cancer & Cancer Predisposition

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

The Turkish Journal of Pediatrics · 2026

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

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

Journal of Clinical Medicine · 2026

DOI PubMed

Cancer Genetics Hematologic Malignancy Genomics

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

Oncology Letters · 2026

DOI PubMed

Cancer Genetics Tumor Genomics & Precision Oncology

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

Pediatric Dermatology · 2026

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Hormone Research in Paediatrics · 2026

DOI PubMed

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

Gazi Medical Journal · 2026

DOI

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

Onder H; Erdem HB; Ceylaner S; Comoglu S

Neurological Sciences · 2026

DOI PubMed

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

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

BMC Pediatrics · 2026

DOI PubMed

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

Journal of Thrombosis and Thrombolysis · 2026

DOI PubMed

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

Oncology Letters · 2026

DOI PubMed

Cancer Genetics Tumor Genomics & Precision Oncology

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

Genel Tıp Dergisi · 2026

DOI

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

Molecular Syndromology · 2026

DOI PubMed

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

Ahmet Kablan

Molecular Syndromology · 2026

DOI PubMed

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia

Sezer A et al.

European Journal of Human Genetics · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

A novel NT5C2 Variant in a Family with Spastic Paraplegia and Intellectual Disability

Yasar D; Sezer A; Konuskan B; Yuksel D

Klinische Pädiatrie · 2025

DOI PubMed

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

A novel seven-tier framework for the classification of MEFV missense variants using adaptive and rigid classifiers

Alay MT

Scientific Reports · 2025

DOI PubMed

Cross-cutting Variant Interpretation & Population Genomics

Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy loss

Taşdelen E; Kutlay NY; Kaplan I; Altiner S; Alay MT

Molecular Biology Reports · 2025

DOI PubMed

Cross-cutting Reproductive Genetics / exploratory

Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient

Kevser-Gangal S; Sezer A; Yazici O; Erdem HB

American Journal of Medical Genetics Part A · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

Kröll-Hermi A et al.; includes Taşdelen E; Sezer A; Büke A

The American Journal of Human Genetics · 2025

DOI PubMed

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway

Hirano Y et al.; includes Sezer A

Brain · 2025

DOI PubMed

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

Clinical Consequences of Cancer-related RAS Signaling Pathway Beyond Malignancy

Elifcan Taşdelen, Afife Büke, Abdullah Sezer, Abdulkerim Kolkıran, Ahmet Kablan, Ayşe Burcu Doğan Arı, Esra Kılıç, İbrahim Kaplan, Müzeyyen Gönül

Acta haematologica oncologica Turcica. · 2025

DOI

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum

Taşdelen E; Gönül M; Gündüz BÖ; Üner Ç; Büke A; Sezer A

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Decoding Genomic Variants in a Turkish Cohort of Patients with Spasticity

Bakir A; Saat H; Erdem HB; Sezer A; Tasdelen E; Dincsoy-Bir F; Önder H; Çomoglu SS; Kazan HH

Bratislava Medical Journal · 2025

DOI

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

Design, Development, and Clinical Validation of a Novel Kit for Cell-Free DNA Extraction

Çelik E; Güner H; Kayali G; Erdem HB; Bahsi T; Kazan HH

Diagnostics · 2025

DOI PubMed

Cancer Genetics Liquid Biopsy & Circulating Tumor DNA

DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report

Yasar D et al.; includes Sezer A

Journal of Pediatric Endocrinology and Metabolism · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

DNMT3A-related overgrowth syndrome presenting with immune thrombocytopenic purpura

Sezer A; Kaya-Güneş O; Kurucu B

Current Research in Translational Medicine · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients

Ari ABD; Türkyilmaz A; Kolkiran A; Taşdelen E; Kiliç E

European Journal of Pediatrics · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene

Kolkıran A; Daşar T; Taşdelen E; Kaya Ö

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

Evaluation of Mutation Profiles of Cardiomyopathy Patients in the Turkish Cohort

Bakir A; Saat H; Erdem HB; Tolunay H; Kazan HH

Bratislava Medical Journal · 2025

DOI

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion

Kablan A; Aru EE; Atar S; Gumus AA; Ili EG; Kayhan G; Tekin K; Silan F

American Journal of Medical Genetics Part A · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation

Kılıç M; Sayar E; İcil S; Doğan S; Gökçe-Altaş G; Koşukçu C; Bakır A; Sezer A

American Journal of Medical Genetics Part A · 2025

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia

Kahraman AB; Çelik H; Bagci Z; Sezer A; Kiliç M

Molecular Genetics and Metabolism Reports · 2025

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye

Dinçsoy Bir F et al.

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders

Kuzucu FN et al.; includes Sezer A

Metabolic Brain Disease · 2025

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant

Kablan A; Aru EE

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

Kolkiran A; Dasar T; Kablan A; Simsek-Kiper PO

Molecular Syndromology · 2025

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets

Kolkiran A; Dasar T; Sezer A

Journal of Pediatric Endocrinology and Metabolism · 2025

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

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

Kablan A; Sezer A; Bakır A; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Alay MT; et al.

Clinical Genetics · 2025

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

Muscle Biopsy as a Decisive Tool in a Pediatric Case with Overlapping Genetic Findings for McArdle Disease and Dystrophinopathy

Sayar E; Kiliç M; Icil S; Saka-Ümit P; Yuksel D; Sezer A; Talim B

Klinische Pädiatrie · 2025

DOI PubMed

Rare Disease Genetics Neuromuscular & Skeletal Genetics

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL

Kilic M; Yildiz H; Dincsoy-Bir F

The Turkish Journal of Pediatrics · 2025

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

Oromandibular Dystonia as the First Reported Presentation of SCA43 Due to MME c.94_95dup (p.Val33Argfs*10)

Önder H; Yavuz Z; Taşdelen E; Erdem HB; Çomoğlu SS; Öztekin MF

Neurology · 2025

DOI PubMed

Rare Disease Genetics Neurogenetics & Neurodevelopmental Disorders

Phenotypic diversity in NAXE mutations

Solmaz I et al.; includes Sezer A

Neurological Sciences · 2025

DOI PubMed

Rare Disease Genetics Metabolic, Mitochondrial & Cardiovascular Genetics

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 · 2025

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

Surgical treatment and somatostatin experience in growth hormone-secreting pituitary macroadenoma due to novel AIP mutation

Karagöz K et al.; includes Sezer A

Journal of Pediatric Endocrinology and Metabolism · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

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

Bakır A; Alay MT; Tekbaş UC; Sucu S; Kalay I; Saat H

Diagnostics · 2025

DOI PubMed

Rare Disease Genetics Cytogenomics & Structural Variation

Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype

Ari H et al.; includes Sezer A

American Journal of Medical Genetics Part A · 2025

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye

Taşdelen E; Sezer A; An İ

American Journal of Medical Genetics Part A · 2024

DOI PubMed

Rare Disease Genetics Syndromic Disorders & Genotype–Phenotype Discovery

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

Eyyüp Üçtepe, Nefise Kandemir, Firdevs Dinçsoy Bir, Asuman Nur Karhan, Sait Tümer, Emine Busra Ondes, Bahadır Konuşkan, Ahmet Yeşilyurt

Molecular Syndromology · 2024

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An Ensemble Model Based on Combining BayesDel and Revel Scores Indicates Outstanding Performance: Importance of Outlier Detection and Comparison of Models

Alay MT

Cerrahpaşa Medical Journal · 2024

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Cross-cutting Variant Interpretation & Population Genomics

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda

Sezer A; Özdemir Z; Özkan E; Çetinkaya S

American Journal of Medical Genetics Part A · 2024

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Rare Disease Genetics Neuromuscular & Skeletal Genetics

Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer

Türkel A; Deliktaş Oİ; Anık H; Öner İ; Erdem HB; Bahsi T; Özalp Ö; Çakmak Öksüzoğlu ÖB; Ateş Ö; Karaçin C

Annals of Human Genetics · 2024

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Cancer Genetics Hereditary Cancer & Cancer Predisposition

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

İbrahim Şahin, Haktan Bağış Erdem, Taha Bahsi, Hanife Saat

Cureus · 2024

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Higher TP53 somatic mutation prevalence from liquid biopsy analysis in ever smoker non-small-cell lung cancer patients

Erdem HB; Alay MT; Özdemir Z; Çevik E; Ateş Ö; Karaçin C; Şahin İ; Doğan M; Bahsi T

Mutation Research · 2024

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Cancer Genetics Liquid Biopsy & Circulating Tumor DNA

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature

Ahmet Kablan, Elifcan Taşdelen

The Italian Journal of Pediatrics/Italian journal of pediatrics · 2024

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The Role of the T790M Mutation in Lung Cancer: A Molecular Perspective Based on Genetic Data

Abdullatif Bakır, Esma Ertürkmen Aru

Acta haematologica oncologica Turcica. · 2024

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Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort

Gülşen M; Ceylan AC; Bahsi T; Çubukçu HC; Dursun OB

Clinica Chimica Acta · 2024

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Rare Disease Genetics Neuromuscular & Skeletal Genetics

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling

Özdemir Z; Çevik E; Çakmak Öksüzoğlu ÖB; Doğan M; Ateş Ö; Esin E; Bilgetekin İ; Demirci U; Köseoğlu Ç; Topal A; Karadurmuş N; Erdem HB; Bahsi T

Mutation Research · 2023

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Cancer Genetics Hereditary Cancer & Cancer Predisposition