Oguz Kanca

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

This study identifies CDKL5 as a kinase that phosphorylates nELAVL proteins, enhancing mRNA binding and protein synthesis, and shows its role in visual cortex development.

This study investigates the functional impact of different NLGN3 variants in Drosophila, finding distinct effects on synapse morphology, sleep behavior, and vesicle dynamics.

This study identifies nervous system requirements for Alzheimer's disease risk genes in Drosophila by analyzing gene function and neurodegeneration.

This study uses Drosophila to model PEX gene variants associated with different severities of peroxisomal biogenesis disorders, showing phenotypic variation based on mutation type.

This study identifies Drospondin, a Drosophila homolog of mammalian Reelin, showing it is essential for nervous system development and function.

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

This paper introduces flow zoometry, a high-throughput screening method for Drosophila, enabling rapid, automated, and high-resolution analysis of whole animals.

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

The paper correlates allelic strengths of UBA5 variants in vivo and in vitro, classifying them into mild, intermediate, and severe based on functional assays.

The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.

This study shows that loss of MECR causes elevated ceramide levels and impaired iron metabolism, linking mitochondrial fatty acid synthesis to neurodegeneration.

The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.

The paper develops engineered kinases to specifically phosphorylate fluorescent protein fusions in vivo, demonstrating their use in studying actomyosin activation in Drosophila embryos.

The paper develops new CRISPR-based constructs for Drosophila gene tagging, enabling efficient gene modification with a 70-80% success rate regardless of exon-intron structure.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

The paper systematically profiles dprs and DIPs expression in Drosophila larval neurons to identify cell surface codes involved in synaptic recognition.

The paper introduces three simplified CRISPR-based methods for DNA insertion in Drosophila, using short homology arms and ssDNA/dsDNA donors to generate transgenic constructs efficiently.

The paper introduces two new genetic tools for efficiently tagging genes in Drosophila using MiMIC and CRISPR, enhancing integration efficiency and enabling precise gene manipulation.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.