Danai Veltra | Neurogenetics and Molecular Neuroscience | Best Researcher Award

Dr. Danai Veltra | Neurogenetics and Molecular Neuroscience | Best Researcher Award 

Dr. Danai Veltra | National and Kapodistrian University | Greece

Dr. Danai Veltra is a Greek medical researcher specializing in clinical genetics and genomic medicine, with a strong focus on rare genetic disorders, epileptic encephalopathies, and neurodevelopmental syndromes. Her research contributions encompass genetic diagnostics through Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES), significantly improving the identification and understanding of Mendelian and chromosomal disorders. She has presented her work at numerous prestigious international conferences, including the European Human Genetics Conference and the European Paediatric Neurology Society Congress, where she has contributed to studies on Marfan syndrome, Williams syndrome, Melnick-Needles syndrome, and Diamond Blackfan Anemia. Dr. Veltra has co-authored impactful publications in leading journals such as the European Journal of Paediatric Neurology, Gynecological Endocrinology, and American Journal of Medical Genetics. Her collaborative work has enhanced genotype–phenotype correlations and advanced precision medicine approaches in pediatric and hereditary diseases. With 237 citations, an h-index of 7, and an i10-index of 5, she has established herself as a promising scientist in medical genetics, contributing both to clinical application and academic advancement in human genomics and molecular diagnostics.

Profile: Google Scholar

Featured Publications

Marinakis, N. M., Svingou, M., Veltra, D., Kekou, K., Sofocleous, C., Tilemis, F. N., … (2021). Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. American Journal of Medical Genetics Part A, 185(8), 2561–2571.

Zouvelou, V., Yubero, D., Apostolakopoulou, L., Kokkinou, E., Bilanakis, M., … Veltra, D. (2019). The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center. European Journal of Paediatric Neurology, 23(3), 427–437.

Tilemis, F. N., Marinakis, N. M., Veltra, D., Svingou, M., Kekou, K., Mitrakos, A., … (2023). Germline CNV detection through whole-exome sequencing (WES) data analysis enhances resolution of rare genetic diseases. Genes, 14(7), 1490.

Pavinato, L., Delle Vedove, A., Carli, D., Ferrero, M., Carestiato, S., Howe, J. L., … (2023). CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain, 146(2), 534–548.

Saffari, A., Lau, T., Tajsharghi, H., Karimiani, E. G., Kariminejad, A., Efthymiou, S., … (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146(8), 3273–3288.

Layo-Carris, D. E., Lubin, E. E., Sangree, A. K., Clark, K. J., Durham, E. L., … (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European Journal of Human Genetics, 32(8), 928–937.

Veltra, D., Kosma, K., Papavasiliou, A., Tilemis, F. N., Traeger‐Synodinos, J., … (2022). A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. American Journal of Medical Genetics Part A, 188(12), 3563–3566.