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Genetic Testing and Molecular Biomarkers|January 28, 2022
New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical VariabilityIbrahim Sahin, Hanife Saat
Molecular Biology Reports|June 19, 2021
A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2Ibrahim Sahin, Hanife Saat
Acta Neurologica Belgica|August 22, 2021
Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutationsIbrahim Sahin, Hanife Saat
Annals of Human Genetics|May 8, 2021
Mutation spectrum of hereditary myopathies in Turkish patients and novel variantsHanife Saat, Ibrahim Sahin
Cureus|March 11, 2024
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent MutationsIbrahim Sahin, Haktan B Erdem, Taha Bahsi, et al.
Molecular Syndromology|December 19, 2025
Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case ReportAhmet Kablan, Abdullah Sezer, Abdüllatif Bakir, et al.
Medeniyet Medical Journal|June 23, 2022
Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel MutationsHanife Saat, Ibrahim Sahin, Neslihan Duzkale, et al.
Life (Basel, Switzerland)|May 4, 2026
Integrated Clinical, Molecular, and Machine Learning Assessment of Familial HypercholesterolemiaMustafa Tarık Alay, Atakan Deniz, Hanife Saat, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|July 20, 2016
Confirmation of the prenatal mosaic trisomy 2 via fetal USG and cytogenetic analysesEsra Tuğ, Deniz Karcaaltincaba, Meral Yirmibeş Karaoğuz, et al.
Molecular and Clinical Oncology|November 26, 2021
Liquid biopsy: Novel perspectives on the importance and spectrum of PIK3CA, PTEN and RET mutations in solid tumorsIbrahim Sahin, Hanife Saat, Sercan Aksoy, et al.
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