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Journal of Pediatric Endocrinology & Metabolism : JPEM|February 25, 2021
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrumMelis Kose, Esra Isik, Ayça Aykut, et al.
Journal of Medical Genetics|April 16, 2026
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathiesSanem Yilmaz, Enise Avci Durmusalioglu, Dilara Ece Toprak Dogan, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|August 1, 2025
Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patientsTahir Atik, Basak Durmus Ozen, Esra Isik, et al.
Journal of Medical Genetics|March 19, 2026
CDK4 and CDK6 variants in patients with primary microcephaly lead to cell cycle defects and mitochondria-induced apoptosisEsra Isik, Mohammad Faraz Zafeer, Guney Bademci, et al.
American Journal of Medical Genetics. Part A|June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsEnise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
European Journal of Haematology|March 31, 2024
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysisEsra Isik, Yesim Aydinok, Canan Albayrak, et al.
Neuromuscular Disorders : NMD|July 17, 2025
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patientsGulcin Akinci, Berk Ozyilmaz, Gulten Ozturk, et al.
American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 17, 2026
The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implicationsSanem Yilmaz, Esra Serdaroglu, Erdem Simsek, et al.
The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.
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