Santoni, Federico A.

TRIM5 is an innate immune sensor for the retrovirus capsid lattice

Pertel, T., Hausmann, S., Morger, D., Züger, S., Guerra, J., Lascano, J., Reinhard, C., Santoni, F. A., Uchil, P. D., Chatel, L., et al. (2011) · Nature

HIV Research and Treatmentinterferon and immune responses

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Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.

Porcu, E., Rüeger, S., Lepik, K., eQTLGen Consortium, Agbessi, M., Ahsan, H., Alves, I., Andiappan, A., Arindrarto, W., Awadalla, P., et al. (2019) · Nature Communications

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Domains of genome-wide gene expression dysregulation in Down’s syndrome

Letourneau, A., Santoni, F. A., Bonilla, X., Sailani, M. R., Gonzalez, D., Kind, J., Chevalier, C., Thurman, R., Sandstrom, R. S., Hibaoui, Y., et al. (2014) · Nature

Down syndrome and intellectual disability researchGenomics and Chromatin Dynamics

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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Hibaoui, Y., Grad, I., Letourneau, A., Sailani, M. R., Dahoun, S., Santoni, F. A., Gimelli, S., Guipponi, M., Pelte, M. F., Béna, F., et al. (2014) · EMBO Molecular Medicine

Down syndrome and intellectual disability researchPluripotent Stem Cells Research

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Biased Allelic Expression in Human Primary Fibroblast Single Cells

Borel, C., Ferreira, P. G., Santoni, F., Delaneau, O., Fort, A., Popadin, K. Y., Garieri, M., Falconnet, E., Ribaux, P., Guipponi, M., et al. (2015) · The American Journal of Human Genetics

Single-cell and spatial transcriptomicsRNA Research and Splicing

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Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

Ansar, M., Ebstein, F., Özkoç, H., Paracha, S. A., Iwaszkiewicz, J., Gesemann, M., Zoete, V., Ranza, E., Santoni, F. A., Sarwar, M. T., et al. (2020) · Human Molecular Genetics

Ubiquitin and proteasome pathwaysGenomics and Rare Diseases

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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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