Francesco Brancati

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154 Article
1 Letter

An explainable model of host genetic interactions linked to COVID-19 severity
GEN-COVID Multicenter Study, Dec 2022, In: Communications Biology. 5, 1, 1133.
Research output: Contribution to journal › Article › peer-review

Open Access
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
Italian Undiagnosed Diseases Network, Jan 13 2022, In: Human Genetics and Genomics Advances. 3, 1, 100072.
Research output: Contribution to journal › Article › peer-review

Open Access
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Italian Undiagnosed Diseases Network, Jul 14 2022, In: Human Genetics and Genomics Advances. 3, 3, 100111.
Research output: Contribution to journal › Article › peer-review

Open Access
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
Hirsch, N., Dahan, I., D'haene, E., Avni, M., Vergult, S., Vidal-García, M., Magini, P., Graziano, C., Severi, G., Bonora, E., Nardone, A. M., Brancati, F., Fernández-Jaén, A., Rory, O. J., Hallgrímsson, B. & Birnbaum, R. Y., Jul 1 2022, In: Genome Research. 32, 7, p. 1242-1253 12 p.
Research output: Contribution to journal › Article › peer-review

Open Access
The different clinical facets of SYN1-related neurodevelopmental disorders
Parenti, I., Leitão, E., Kuechler, A., Villard, L., Goizet, C., Courdier, C., Bayat, A., Rossi, A., Julia, S., Bruel, A. L., Tran Mau-Them, F., Nambot, S., Lehalle, D., Willems, M., Lespinasse, J., Ghoumid, J., Caumes, R., Smol, T., El Chehadeh, S., Schaefer, E., & 30 othersAbi-Warde, M. T., Keren, B., Afenjar, A., Tabet, A. C., Levy, J., Maruani, A., Aledo-Serrano, Á., Garming, W., Milleret-Pignot, C., Chassevent, A., Koopmans, M., Verbeek, N. E., Person, R., Belles, R., Bellus, G., Salbert, B. A., Kaiser, F. J., Mazzola, L., Convers, P., Perrin, L., Piton, A., Wiegand, G., Accogli, A., Brancati, F., Benfenati, F., Chatron, N., Lewis-Smith, D., Thomas, R. H., Zara, F. & Striano, P., Dec 8 2022, In: Frontiers in Cell and Developmental Biology. 10, 1019715.
Research output: Contribution to journal › Article › peer-review

Open Access

Francesco Brancati

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Research output

An explainable model of host genetic interactions linked to COVID-19 severity

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

The different clinical facets of SYN1-related neurodevelopmental disorders