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American Journal of Medical Genetics. Part A|June 6, 2024
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of TurkiyeElifcan Taşdelen, Abdullah Sezer, Isa AnJournal of Pediatric Endocrinology & Metabolism : JPEM|June 13, 2025
MMP13-related metaphyseal dysplasia: a differential diagnosis of ricketsAbdulkerim Kolkiran, Tuğba Daşar, Abdullah SezerMolecular Syndromology|December 5, 2024
<i>RMND1</i> Mutation Case Report and Literature ReviewHarun Bayrak, Abdullah Sezer, Mustafa KılıçEuropean Journal of Medical Genetics|July 20, 2023
Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorderAbdullah Sezer, Gulsum Kayhan, Ferda E PercinCurrent Research in Translational Medicine|November 23, 2024
DNMT3A-related overgrowth syndrome presenting with immune thrombocytopenic purpuraAbdullah Sezer, Öznur Kaya Güneş, Burçak KurucuMolecular Syndromology|June 3, 2026
Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson SyndromeSuzan İcil, Mustafa Kılıç, Esra Sayar, et al.American Journal of Medical Genetics. Part A|August 16, 2024
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tardaAbdullah Sezer, Zeynep Özdemir, Erdem Özkan, et al.Molecular Syndromology|May 21, 2026
Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose IntoleranceMustafa Kılıç, Esra Sayar, Suzan İcil, et al.Acta Neurologica Belgica|November 21, 2024
Two remarkable cases of haploinsufficiency found in the DYRK1A geneElifcan Taşdelen, Umut Can Tekbaş, Hasan Baş, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 30, 2026
Meier-Gorlin syndrome due to a recurrent <i>DONSON</i> variant in a Turkish family: first report of thumb aplasia and long-term growth dataAbdullah Sezer, Fatma Zehra Yalçın, Abdulkerim Kolkıran, et al.Pageof 5