• 22 Citations
  • 2 h-Index
20172019
If you made any changes in Pure these will be visible here soon.

Research Output 2017 2019

  • 22 Citations
  • 2 h-Index
  • 4 Article
  • 1 Conference contribution
Filter
Article
2018
Adenosine Monophosphate
Cardiovascular Diseases
Guidelines
Virulence
Inborn Genetic Diseases

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

2017
4 Citations (Scopus)

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., 2017, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Exome
Workflow
Safe Sex
Gene Expression Regulation
Computational Biology
18 Citations (Scopus)

MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome

Vetro, A., Savasta, S., Russo Raucci, A., Cerqua, C., Sartori, G., Limongelli, I., Forlino, A., Maruelli, S., Perucca, P., Vergani, D., Mazzini, G., Mattevi, A., Stivala, L. A., Salviati, L. & Zuffardi, O., May 1 2017, In : European Journal of Human Genetics. 25, 5, p. 646-650 5 p.

Research output: Contribution to journalArticle

DNA Replication
Mutation
Genes
Cell Cycle
Exome