Current Residents

Afife Büke

Medical Genetics Resident

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

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

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