Genetics of Neurodevelopmental Disorders

Our multidisciplinary research team aims at dentifying and validating novel genetic causes of neurodevelopmental disorders in human patients, taking advantage of clinically well characterized patient cohorts and of genomewide massive parallel sequencing approaches. We focus on patients with intellectual disability and autism, which may be present in combination with motor impairments and/or epilepsy. The identification of novel ID and autism gene provides the basis for future Precision Medicine practices within this vast group of disorders.

Funding Agency


Project Reference

Project Members

Main Project Outcomes

S. Queirós, “Right ventricular segmentation in multi-view cardiac MRI using a unified U-net model”, in E. Puyol Antón et al. (eds) Statistical Atlases and Computational Models of the Heart. Multi-Disease, Multi-View, and Multi-Center Right Ventricular Segmentation in Cardiac MRI Challenge. STACOM 2021. Lecture Notes in Computer Science, vol 13131, pp. 287-295, Springer, Cham, 2022.

“Best Paper Award in the M&Ms-2 Challenge”, by M&Ms2 Challenge organizers and the Medical Image Computing and Computer Assisted Intervention (MICCAI) Society.

Main Project Outcomes

Torres, F., Barbosa, M., & Maciel, P. (2016). Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. Journal of Medical Genetics, 53(2), 73–90.

Lopes, F., Barbosa, M., Ameur, A., Soares, G., de Sá, J., Dias, A. I., Oliveira, G., Cabral, P., Temudo, T., Calado, E., Cruz, I. F., Vieira, J. P., Oliveira, R., Esteves, S., Sauer, S., Jonasson, I., Syvänen, A. C., Gyllensten, U., Pinto, D., & Maciel, P. (2016). Identification of novel genetic causes of Rett syndrome-like phenotypes. Journal of Medical Genetics, 53(3), 190–199.

Lim, E. T., Uddin, M., De Rubeis, S., Chan, Y., Kamumbu, A. S., Zhang, X., D’Gama, A. M., Kim, S. N., Hill, R. S., Goldberg, A. P., Poultney, C., Minshew, N. J., Kushima, I., Aleksic, B., Ozaki, N., Parellada, M., Arango, C., Penzol, M. J., Carracedo, A., Kolevzon, A., … Walsh, C. A. (2017). Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience, 20(9), 1217–1224.

Lopes, F., Soares, G., Gonçalves-Rocha, M., Pinto-Basto, J., & Maciel, P. (2017). Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. Frontiers in Genetics, 8, 143.

Lopes, F., Torres, F., Lynch, S. A., Jorge, A., Sousa, S., Silva, J., Rendeiro, P., Tavares, P., Fortuna, A. M., & Maciel, P. (2018). The contribution of 7q33 copy number variations for intellectual disability. Neurogenetics, 19(1), 27–40.

Lopes, F., Torres, F., Soares, G., van Karnebeek, C. D., Martins, C., Antunes, D., Silva, J., Muttucomaroe, L., Botelho, L. F., Sousa, S., Rendeiro, P., Tavares, P., Van Esch, H., Rajcan-Separovic, E., & Maciel, P. (2019). The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review. Frontiers in Genetics, 10, 58.

Lopes, F., Torres, F., Soares, G., Barbosa, M., Silva, J., Duque, F., Rocha, M., Sá, J., Oliveira, G., Sá, M. J., Temudo, T., Sousa, S., Marques, C., Lopes, S., Gomes, C., Barros, G., Jorge, A., Rocha, F., Martins, C., Mesquita, S., … Maciel, P. (2019). Genomic imbalances defining novel intellectual disability associated loci. Orphanet Journal of Rare Diseases, 14(1), 164.

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J. Y., Peng, M., Collins, R., Grove, J., Klei, L., Stevens, C., Reichert, J., Mulhern, M. S., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., Brand, H., … Buxbaum, J. D. (2020). Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell, 180(3), 568–584.e23.

Da Silva, J. D., Costa, M. D., Almeida, B., Lopes, F., Maciel, P., & Teixeira-Castro, A. (2021). Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders. Frontiers in Neurology, 12, 735549.

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., … Talkowski, M. E. (2022). Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics, 54(9), 1320–1331.