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Molecular Syndromology|December 18, 2025
Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case ReportAslihan Sanri, Mehmet Burak Mutlu
European Journal of Medical Genetics|March 22, 2023
YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature reviewAslihan Sanri, Mehmet Burak Mutlu, Ozlem Sezer
Cytogenetic and Genome Research|November 6, 2025
Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital AnomaliesAslihan Sanri, Mehmet Burak Mutlu, Ozlem Sezer
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|November 30, 2024
Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH methodFethiye Kılıçaslan, Özlem Öz, Mehmet Burak Mutlu
Molecular Syndromology|June 6, 2024
Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau SyndromeHatice Yelda Yalçın, Tayfun Cinleti, Servet Yel, et al.
Muscle & Nerve|July 21, 2026
Clinical and Electrodiagnostic Characterization of Pediatric Triple A Syndrome: A Cohort of 17 PatientsOsman Kipoğlu, Hayrullah Manyas, Mehmet Burak Mutlu, et al.
Pediatric Diabetes|December 10, 2025
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center ExperienceAslihan Sanri, Tugba Kontbay Cetin, Emel Gul Acikgoz, et al.
Brain & Development|January 10, 2026
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insightsAslihan Sanri, Unal Akca, Mehmet Burak Mutlu, et al.
Molecular Syndromology|May 7, 2025
A Novel de novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and DysmorphismSabri Aynacı, Sinem Kocagil, Coşkun Yarar, et al.
Developmental Neurobiology|July 3, 2026
From Behavioral and Sleep Disturbances to Genetic Diagnosis: Smith-Magenis Syndrome and the Importance of the Diagnostic PathwayFethiye Kılıçaslan, Ayşe Rümeysa Olgar Çetin, Özlem Öz, et al.
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