• 1322 Citations
  • 18 h-Index

Research output per year

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Fingerprint Dive into the research topics where Maria Chiara Manzini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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  • Research Output

    • 1322 Citations
    • 18 h-Index
    • 34 Article
    • 2 Review article
    • 1 Chapter
    • 1 Short survey

    Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

    Lee, S., Chen, D. Y., Zaki, M. S., Maroofian, R., Houlden, H., Di Donato, N., Abdin, D., Morsy, H., Mirzaa, G. M., Dobyns, W. B., McEvoy-Venneri, J., Stanley, V., James, K. N., Mancini, G. M. S., Schot, R., Kalayci, T., Altunoglu, U., Karimiani, E. G., Brick, L., Kozenko, M. & 4 others, Jamshidi, Y., Manzini, M. C., Beiraghi Toosi, M. & Gleeson, J. G., Oct 3 2019, In : American Journal of Human Genetics. 105, 4, p. 844-853 10 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    De novo and biallelic DEAF1 variants cause a phenotypic spectrum

    Nabais Sá, M. J., Jensik, P. J., McGee, S. R., Parker, M. J., Lahiri, N., McNeil, E. P., Kroes, H. Y., Hagerman, R. J., Harrison, R. E., Montgomery, T., Splitt, M., Palmer, E. E., Sachdev, R. K., Mefford, H. C., Scott, A. A., Martinez-Agosto, J. A., Lorenz, R., Orenstein, N., Berg, J. N., Amiel, J. & 18 others, Heron, D., Keren, B., Cobben, J. M., Menke, L. A., Marco, E. J., Graham, J. M., Pierson, T. M., Karimiani, E. G., Maroofian, R., Manzini, M. C., Cauley, E. S., Colombo, R., Odent, S., Dubourg, C., Phornphutkul, C., de Brouwer, A. P. M., de Vries, B. B. A. & Vulto-vanSilfhout, A. T., Sep 1 2019, In : Genetics in Medicine. 21, 9, p. 2059-2069 11 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability

    Zamarbide, M., Mossa, A., Muñoz-Llancao, P., Wilkinson, M. K., Pond, H. L., Oaks, A. W. & Manzini, M. C., May 1 2019, In : Biological Psychiatry. 85, 9, p. 760-768 9 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    Microsampling Capillary Electrophoresis Mass Spectrometry Enables Single-Cell Proteomics in Complex Tissues: Developing Cell Clones in Live Xenopus laevis and Zebrafish Embryos

    Lombard-Banek, C., Moody, S. A., Manzini, M. C. & Nemes, P., Apr 2 2019, In : Analytical Chemistry. 91, 7, p. 4797-4805 9 p.

    Research output: Contribution to journalArticle

  • 21 Scopus citations

    Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders

    Mossa, A. & Manzini, M. C., Jan 1 2019, (Accepted/In press) In : Journal of Neuroscience Research.

    Research output: Contribution to journalReview article

    Open Access