I’ve contributed to the scientific literature as both a first author and a collaborator on projects that combine two of my greatest passions — biology and computation. My work spans rare cancer syndromes, genomic diversity, and bioinformatics, with a focus on advancing translational research and improving representation in genomics.
Feel free to explore my publications listed below and through my scholarly links, and feel welcome to engage with my chatbot if you’d like to explore these works further.
Genes (2025): “Novel TBR1 c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.”
Genes (2024): “Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.”
Journal of Personalized Medicine (2024): “Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.”
Cancer Genetics (2024): “Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.”
Genes (2024): “Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.”
The American Journal of Case Reports (2024): “Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.”
Cancers MDPI (2024): “Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.”
Cancer Medicine (2024): “Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.”
Frontiers in Oncology (2024): “Development and evaluation of INT²GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.”
Harvard University Thesis (2024): “Genetic Evaluation of Rare Cancer Syndromes Using a Combined Analysis of the Germline and Tumor Genome Data.”