• 457 Citations
  • 10 h-Index
20012019
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Fingerprint Dive into the research topics where Ornella Galesi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 23 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Partial Epilepsy Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Trisomy Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences

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Research Output 2001 2019

  • 457 Citations
  • 10 h-Index
  • 24 Article
Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Romano Corrado, Sep 25 2019, In : Science Advances. 5, 9, eaax2166.

Research output: Contribution to journalArticle

synapses
disabilities
seizures
proteins
Drosophila
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
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

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G. A. & Fichera, M., Aug 9 2016, (Accepted/In press) In : Genes and Genomics. p. 1-6 6 p.

Research output: Contribution to journalArticle

Neural Cell Adhesion Molecule L1
Assays
Genes
Mutation
Paraplegia