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Marco Fichera

  • 4880 Citations
  • 29 h-Index
19972019
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  • 42 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Chromosome Deletion Medicine & Life Sciences

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Research Output 1997 2019

  • 4880 Citations
  • 29 h-Index
  • 98 Article

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

Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry
2 Citations (Scopus)

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

Periventricular Nodular Heterotopia
Genetic Heterogeneity
Genes
Malformations of Cortical Development
Transport Vesicles
1 Citation (Scopus)

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

Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation

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

Hereditary Spastic Paraplegia
Spastic Paraparesis
Recessive Genes
Mutation
Genes
13 Citations (Scopus)

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

Phenotype
Genes
Exome
Gene Dosage
Autistic Disorder