• 1530 Citations
  • 19 h-Index
19962019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 42 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Mothers Medicine & Life Sciences
Congenital Heart Defects Medicine & Life Sciences
Microcephaly Medicine & Life Sciences

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Research Output 1996 2019

  • 1530 Citations
  • 19 h-Index
  • 165 Article
  • 3 Review article

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

Pascolini, G., Majore, S., Valiante, M., Bottillo, I., Laino, L., Agolini, E., Novelli, A., Grammatico, B., Calvani, M. & Grammatico, P., Feb 4 2019, In : Psychiatric Genetics.

Research output: Contribution to journalArticle

Intellectual Disability
Genes
Gene Duplication
Genome-Wide Association Study
Receptor Protein-Tyrosine Kinases

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Pelizzo, G., Collura, M., Puglisi, A., Pappalardo, M. P., Agolini, E., Novelli, A., Piccione, M., Cacace, C., Bussani, R., Corsello, G. & Calcaterra, V., Mar 29 2019, In : BMC Pediatrics. 19, 1

Research output: Contribution to journalArticle

Filamins
Lung Diseases
Periventricular Nodular Heterotopia
Lung
Mutation

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Pelizzo, G., Collura, M., Puglisi, A., Pappalardo, M. P., Agolini, E., Novelli, A., Piccione, M., Cacace, C., Bussani, R., Corsello, G. & Calcaterra, V., Mar 29 2019, In : BMC Pediatrics. 19, 1, 86.

Research output: Contribution to journalReview article

Filamins
Lung Diseases
Periventricular Nodular Heterotopia
Lung
Mutation

Copy number variants in autism spectrum disorders

Vicari, S., Napoli, E., Cordeddu, V., Menghini, D., Alesi, V., Loddo, S., Novelli, A. & Tartaglia, M., Feb 20 2019, In : Progress in Neuro-Psychopharmacology and Biological Psychiatry. 92, p. 421-427 7 p.

Research output: Contribution to journalReview article

Genomic Structural Variation
Comparative Genomic Hybridization
Human Genome
Single Nucleotide Polymorphism
Autism Spectrum Disorder
Exome
Cost-Benefit Analysis
diagnostic
costs
Sick Role