Duketis, Eftichia

Synaptic, transcriptional and chromatin genes disrupted in autism

Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,746

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 2,013

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 969

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 593

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 429

Individual common variants exert weak effects on the risk for autism spectrum disorders

Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 375

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Casey, J. P., Magalhaes, T., Conroy, J. M., Regan, R., Shah, N., Anney, R., Shields, D. C., Abrahams, B. S., Almeida, J., Bacchelli, E., et al. (2012) · Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 200

Sex differences in cognitive domains and their clinical correlates in higher-functioning autism spectrum disorders

Bölte, S., Duketis, E., Poustka, F., & Holtmann, M. (2011) · Autism

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 168

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

Waltes, R., Duketis, E., Knapp, M., Anney, R. J. L., Huguet, G., Schlitt, S., Jarczok, T. A., Sachse, M., Kämpfer, L. M., Kleinböck, T., et al. (2014) · Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 71

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

Torrico, B., Chiocchetti, A. G., Bacchelli, E., Trabetti, E., Hervás, A., Franke, B., Buitelaar, J. K., Rommelse, N., Yousaf, A., Duketis, E., et al. (2017) · Autism Research

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 47

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder

Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S. M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C. M., Lee, I., et al. (2011) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 34