Markianos, Kyriacos

Identifying autism loci and genes by tracing recent shared ancestry

Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 737

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

Finberg, K. E., Heeney, M. M., Campagna, D. R., Aydınok, Y., Pearson, H. A., Hartman, K. R., Mayo, M. M., Samuel, S. M., Strouse, J. J., Markianos, K., et al. (2008) · Nature Genetics

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 675

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 442

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Chakraborty, P. K., Schmitz-Abe, K., Kennedy, E. K., Mamady, H., Naas, T., Durie, D., Campagna, D. R., Lau, A., Sendamarai, A. K., Wiseman, D. H., et al. (2014) · Blood

Iron Metabolism and DisordersRNA and protein synthesis mechanisms

Cited by 190

A Cryptic Subgroup of Anopheles gambiae Is Highly Susceptible to Human Malaria Parasites

Riehle, M. M., Guelbeogo, W. M., Gneme, A., Eiglmeier, K., Holm, I., Bischoff, E., Garnier, T., Snyder, G. M., Li, X., Markianos, K., et al. (2011) · Science

Malaria Research and ControlGenetic diversity and population structure

Cited by 145

Biallelic mutations in human DCC cause developmental split-brain syndrome

Jamuar, S. S., Schmitz-Abe, K., D'Gama, A. M., Drottar, M., Chan, W.-M., Peeva, M., Servattalab, S., Lam, A.-T. N., Delgado, M. R., Clegg, N. J., et al. (2017) · Nature Genetics

Fetal and Pediatric Neurological DisordersAxon Guidance and Neuronal Signaling

Cited by 81

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Schmitz-Abe, K., Ciesielski, S. J., Schmidt, P. J., Campagna, D. R., Rahimov, F., Schilke, B. A., Cuijpers, M., Rieneck, K., Lausen, B., Linenberger, M. L., et al. (2015) · Blood

Iron Metabolism and DisordersHemoglobinopathies and Related Disorders

Cited by 75

Comparative RNA editing in autistic and neurotypical cerebella

Eran, A., Li, J. B., Vatalaro, K., McCarthy, J., Rahimov, F., Collins, C., Markianos, K., Margulies, D. M., Brown, E. N., Calvo, S. E., et al. (2013) · Molecular Psychiatry

RNA regulation and diseaseGenetics and Neurodevelopmental Disorders

Cited by 70

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

Heeney, M. M., Guo, D., De Falco, L., Campagna, D. R., Olbina, G., Kao, P. P.-C., Schmitz-Abe, K., Rahimov, F., Gutschow, P., Westerman, K., et al. (2018) · Blood

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 25

A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation

Gorman, B. R., Francis, M., Nealon, C. L., Halladay, C. W., Duro, N., Markianos, K., Genovese, G., Hysi, P. G., Choquet, H., Afshari, N. A., et al. (2024) · Communications Biology

Corneal surgery and disordersGenetic Associations and Epidemiology

Cited by 23