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Clinical Genetics|August 27, 2025
Adult-Onset Nephrotic Syndrome due to a Homozygous TNS2 Truncating Variant: Broadening the Mutational SpectrumAli Babazade, Taha Enes Cetin, Ozant Helvacı, et al.
Clinical Genetics|June 18, 2025
Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype SpectrumTarik Duzenli, Vusala Yusufova, Huriye Cetin, et al.
American Journal of Medical Genetics. Part A|March 7, 2022
A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalitiesAbdullah Sezer, Ferda Emriye Perçin, Hasan Huseyin Kazan, et al.
American Journal of Medical Genetics. Part A|May 23, 2023
Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findingsTarik Duzenli, Abdullah Sezer, Gulsum Kayhan, et al.
American Journal of Medical Genetics. Part A|October 10, 2022
A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung diseaseAbdullah Sezer, Gulsum Kayhan, Tugba Ramasli Gursoy, et al.
Genetic Testing and Molecular Biomarkers|July 27, 2018
Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan SyndromeGulsum Kayhan, Mehmet Ali Ergun, Sezen Guntekin Ergun, et al.
Congenital Anomalies|August 23, 2025
Chromosomal Microarray in Prenatal Diagnosis: A Single Center Experience From TürkiyeGulsum Kayhan, Meral Yirmibeş Karaoguz, Pınar Calis, et al.
Clinics and Research in Hepatology and Gastroenterology|August 22, 2025
GGT-normal cholestasis associated with LSR deficiency: A potential new subtype of PFICOzlem Sumer Cosar, Hakan Ozturk, Gulsum Kayhan, et al.
Cytogenetic and Genome Research|July 31, 2026
Integrating Optical Genome Mapping into the Genetic Diagnostic Algorithm: Clinical Utility in Unresolved Autosomal Recessive Disorders from a Large CohortOzge Beyza Gundogdu Ogutlu, Hasan Huseyin Kazan, Mehmet Burak Mutlu, et al.
International Journal of Ophthalmology|August 21, 2023
Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variantsÖzge Vural, Hatice Tuba Atalay, Gulsum Kayhan, et al.
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