Faculty / Medical Geneticists

Elifcan Taşdelen

Medical Genetics Specialist

Department: Department of Medical Genetics, Ankara Etlik City Hospital

Publications listing this author

Records from the department’s publication database whose author list includes this name. Author strings are reproduced from the source record and are not rewritten.

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

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

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

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

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

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

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

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

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

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

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

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

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