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Marco Fichera

19972019

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Research Output

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Scuderi, C., Saccuzzo, L., Vinci, M., Castiglia, L., Galesi, O., Salemi, M., Mattina, T., Borgione, E., Città, S., Romano, C. & Fichera, M., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journal › Article

    • Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

    Cellini, E., Vetro, A., Conti, V., Marini, C., Doccini, V., Clementella, C., Parrini, E., Giglio, S., Della Monica, M., Fichera, M., Musumeci, S. A. & Guerrini, R., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

    Research output: Contribution to journal › Article

    • Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

    Fichera, M., Failla, P., Saccuzzo, L., Miceli, M., Salvo, E., Castiglia, L., Galesi, O., Grillo, L., Calì, F., Greco, D., Amato, C., Romano, C. & Elia, M., Jan 1 2019, (Accepted/In press) In : Human Genetics.

    Research output: Contribution to journal › Article

    • Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

    Vinci, M., Fichera, M., Musumeci, S. A., Cali, F. & Vitello, G. A., Dec 1 2018, In : Journal of Genetics. 97, 5, p. 1469-1472 4 p.

    Research output: Contribution to journal › Article

    • Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F. & 36 others, Curró, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandarà, L., Vincent, M., Nizon, M., Mercier, S., Bénéteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. L., Caberg, J. H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J. & Girirajan, S., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

    Research output: Contribution to journal › Article