• 1584 Citations
  • 20 h-Index
19962019
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Fingerprint Dive into the research topics where Antonio Novelli is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 32 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
Haploinsufficiency Medicine & Life Sciences

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Research Output 1996 2019

  • 1584 Citations
  • 20 h-Index
  • 175 Article
  • 3 Review article

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Bonati, M. T., Castronovo, C., Sironi, A., Zimbalatti, D., Bestetti, I., Crippa, M., Novelli, A., Loddo, S., Dentici, M. L., Taylor, J., Devillard, F., Larizza, L. & Finelli, P., Jun 17 2019, In : Neurogenetics.

Research output: Contribution to journalArticle

Genes
Cytogenetics
Computer Simulation
Neurodevelopmental Disorders
Phenotype
Intellectual Disability
Siblings
Genes
Chromosome Duplication
Splenomegaly

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

Alesi, V., Loddo, S., Calì, F., Orlando, V., Genovese, S., Ferretti, D., Calacci, C., Calvieri, G., Falasca, R., Ulgheri, L., Drago, F., Dallapiccola, B., Baban, A. & Novelli, A., May 30 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Phenotype
Nose
Language Development Disorders
Haploinsufficiency
Muscle Hypotonia

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

Sturiale, L., Bianca, S., Garozzo, D., Terracciano, A., Agolini, E., Messina, A., Palmigiano, A., Esposito, F., Barone, C., Novelli, A., Fiumara, A., Jaeken, J. & Barone, R., Sep 16 2019, In : Glycoconjugate Journal.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Glycosylation
Polysaccharides
Defects
Serum

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