Faculty / Medical Geneticists

Mustafa Tarık Alay

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.

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

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

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 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

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

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

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

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

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

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

DOI

Cross-cutting Variant Interpretation & Population Genomics

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

DOI PubMed

Cancer Genetics Liquid Biopsy & Circulating Tumor DNA