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Molecular Syndromology|December 13, 2021
Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male PatientNihat Bugra Agaoglu, Ozlem Akgun DoganFrontiers in Pediatrics|March 14, 2025
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experienceHandan Kava, Ozlem Akgun-Dogan, Ahmet Yesilyurt, et al.Rheumatology International|September 22, 2019
The same mutation in a family with adenosine deaminase 2 deficiencyBetul Sozeri, Gozde Ercan, Ozlem Akgun Dogan, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 15, 2023
DNAJC21-related thrombocytopenia in a young adult femaleDeniz Aslan, Ozlem Akgun-Dogan, Beril Ay, et al.Journal of Cardiovascular Electrophysiology|December 3, 2021
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1Ozlem Akgun-Dogan, Nihat B Ağaoğlu, Yasemin K Demirkol, et al.Pediatric Nephrology (Berlin, Germany)|January 27, 2025
Exocrine pancreatic insufficiency as an unusual extrarenal manifestation of proximal renal tubular acidosis associated with a novel SLC4A4 mutationBerfin Hasturk, Ayse Agbas, Ozlem Akgun-Dogan, et al.Clinical Genetics|November 18, 2025
Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and HyperacusisGulsah Sebnem Ozkose, Yasemin Topcu, Beril Ay, et al.Northern Clinics of Istanbul|May 17, 2024
A rare disease: ZAP70 deficiencySeher Erdogan, Selen Ceren Cakmak, Atay Gurkan, et al.European Journal of Human Genetics : EJHG|February 8, 2022
Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panelsNihat Bugra Agaoglu, Busra Unal, Ozlem Akgun Dogan, et al.Northern Clinics of Istanbul|November 9, 2020
The musculoskeletal system manifestations in children with familial Mediterranean feverFerhat Demir, Gizem Leyla Bolac, Tuba Merter, et al.Pageof 4