Research Output per year
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.
- 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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
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, , Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.Research output: Contribution to journal › Article
Phenotype
Genes
Exome
Gene Dosage
Autistic Disorder