• 1382 Citations
  • 19 h-Index
20072019
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Fingerprint Dive into the research topics where Annalisa Vetro is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 38 Similar Profiles
Comparative Genomic Hybridization Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Adenomatous Polyposis Coli Medicine & Life Sciences
Karyotyping Medicine & Life Sciences
Chromosomes Medicine & Life Sciences

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Research Output 2007 2019

  • 1382 Citations
  • 19 h-Index
  • 57 Article
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 journalArticle

Periventricular Nodular Heterotopia
Genetic Heterogeneity
Genes
Malformations of Cortical Development
Transport Vesicles
1 Citation (Scopus)

PIEZO1 hypomorphic variants in congenital lymphatic dysplasia cause shape and hydration alterations of red blood cells

Andolfo, I., De Rosa, G., Errichiello, E., Manna, F., Rosato, B. E., Gambale, A., Vetro, A., Calcaterra, V., Pelizzo, G., De Franceschi, L., Zuffardi, O., Russo, R. & Iolascon, A., Jan 1 2019, In : Frontiers in Physiology. 10, MAR, 258.

Research output: Contribution to journalArticle

Open Access
Erythrocytes
Mutation
Spherocytes
Hereditary Spherocytosis
Exome

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

Vetro, A., Goidin, D., Lesende, I., Limongelli, I., Ranzani, G. N., Novara, F., Bonaglia, M. C., Rinaldi, B., Franchi, F., Manolakos, E., Lonardo, F., Scarano, F., Scarano, G., Costantino, L., Tedeschi, S., Giglio, S. & Zuffardi, O., 2018, In : Clinical Genetics. 93, 3, p. 545-556 12 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

Marabelli, M., Gismondi, V., Ricci, M. T., Vetro, A., Abou Khouzam, R., Rea, V., Vitellaro, M., Zuffardi, O., Varesco, L. & Ranzani, G. N., Dec 2017, In : Genes Chromosomes and Cancer. 56, 12, p. 846-854 9 p.

Research output: Contribution to journalArticle

Founder Effect
Adenomatous Polyposis Coli
Nucleic Acid Regulatory Sequences
Phenotype
Adenomatous Polyps
3 Citations (Scopus)

A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

Marabelli, M., Gismondi, V., Ricci, M. T., Vetro, A., Abou Khouzam, R., Rea, V., Vitellaro, M., Zuffardi, O., Varesco, L. & Ranzani, G. N., Dec 1 2017, In : Genes Chromosomes and Cancer. 56, 12, p. 846-854 9 p.

Research output: Contribution to journalArticle

Founder Effect
Adenomatous Polyposis Coli
Nucleic Acid Regulatory Sequences
Phenotype
Adenomatous Polyps