Faculty / Medical Geneticists

Mustafa Tarık Alay

Medical Genetics Specialist

Department: Department of Medical Genetics, Ankara Etlik City Hospital

Departmental publications

Records from the department’s publication database linked to this researcher. The count above and this list come from the same index as the Publications page, so the figure matches that page’s author filter exactly. 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

Departmental publications

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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