| Issue Date | Title | Author(s) |
| 2024 | A case report of Hennekam syndrome with a mutation in the CCBE1 gene | Durak, T. ; Karaer, D. ; Karaer, K. |
| 2022 | Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias | Olmez, Akgun; Cetin, Gokhan Ozan ; Karaer, Kadri |
| 2023 | Evaluation of the frequency of MEFV gene variants in patients with a pre-diagnosis of Familial Mediterranean Fever (FMF) in southeast Türkiye | Karaer, Derya ; Şahinoğlu, Bahtiyar; Gürler, Abdullah İhsan; Karaer, Kadri |
| 2024 | Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease | Bas, H.; Durmaz, C.D.; Tombak, M.C. ; Cetin, G.O. ; Karaer, K. |
| 2021 | From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients | Mutlu Albayrak, Hatice; Elçioğlu, Nursel H.; Yeter, Burcu; Karaer, Kadri |
| 2022 | Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders | Gumuslu, Esen; Guemues, Evren; Oz, Ozlem; Ozkan, Melis; Karaer, Kadri ; Ekici, Arif; Yildiz, Edibe Pembegul; Aydinli, Nur ; Reis, Andre |
| 2023 | The Molecular Spectrum of Beta Thalassemia Mutations in Southeastern, Turkey | Karaer, Derya ; Şahinoğlu, Bahtiyar; Şahinoğlu, Esra Pekpak; Gürler, Abdullah I.; Kirat, Emre; Karaer, Kadri |
| 2022 | Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum | Karaer K. ; Karaer D. ; Yüksel Z.; Işikay S. |
| 2024 | Noonan syndrome: molecular and clinical findings in individuals with PTPN11 pathogenic variants | Karaer, Derya ; Durak, Taner ; Karaer, Kadri |
| 2022 | Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes Analysis of a Turkish cohort | Keskin, Gul; Karaer, Kadri ; Ucar Gundogar, Zubeyde |
| 2022 | Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome | Karaer, Derya ; Karaer, Kadri |
