Pramparo, Tiziano

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 559

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

Marchetto, M. C., Belinson, H., Tian, Y., Freitas, B. C., Fu, C., Vadodaria, K. C., Beltrao-Braga, P. C., Trujillo, C. A., Mendes, A. P. D., Padmanabhan, K., et al. (2017) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 466

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J. B., Obiajulu, J. U., Wright, J. R., Murali, S. C., Xu, S. X., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 453

The ASD Living Biology: from cell proliferation to clinical phenotype

Courchesne, E., Pramparo, T., Gazestani, V. H., Lombardo, M. V., Pierce, K., & Lewis, N. E. (2019) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 333

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., et al. (2017) · Science

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 262

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T. N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D. M., et al. (2019) · npj Genomic Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 247

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Bonaglia, M. C., Giorda, R., Mani, E., Aceti, G., Anderlid, B.-M., Baroncini, A., Pramparo, T., & Zuffardi, O. (2006) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 211

Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages

Chow, M. L., Pramparo, T., Winn, M. E., Barnes, C. C., Li, H.-R., Weiss, L., Fan, J.-B., Murray, S., April, C., Belinson, H., et al. (2012) · PLoS Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 202

Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder

Lombardo, M. V., Moon, H. M., Su, J., Palmer, T. D., Courchesne, E., & Pramparo, T. (2018) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 201

Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers

Pramparo, T., Lombardo, M. V., Campbell, K., Barnes, C. C., Marinero, S., Solso, S., Young, J., Mayo, M., Dale, A., Ahrens‐Barbeau, C., et al. (2015) · Molecular Systems Biology

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 88

Hierarchical cortical transcriptome disorganization in autism

Lombardo, M. V., Courchesne, E., Lewis, N. E., & Pramparo, T. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 7