• 4801 Citations
  • 28 h-Index
19972019
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Fingerprint Dive into the research topics where Marco Fichera is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 34 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

  • 4801 Citations
  • 28 h-Index
  • 98 Article
Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry
1 Citation (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 journalArticle

Periventricular Nodular Heterotopia
Genetic Heterogeneity
Genes
Malformations of Cortical Development
Transport Vesicles
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
Hereditary Spastic Paraplegia
Spastic Paraparesis
Recessive Genes
Mutation
Genes
10 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 journalArticle

Phenotype
Genes
Exome
Gene Dosage
Autistic Disorder