Simona Incollu
Post-doctoral research grant
Area of interest:
My previous research experience was focused on the molecular study of the ATP7B gene (Wilson Disease), both in the diagnosis of the disease and in functional studies.
In the meanwhile, I obtained the specialization degree in Clinical Pathology.
My current job is the management of scientific dissemination of the Women4Health project and, in the near future, the enrollment of volunteers and management of the related database regarding the questionnaire to be filled by volunteers.
Most significant publications:
2013
The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population Journal Article
In: Eur J Hum Genet, 21 (11), pp. 1308–1311, 2013.
2012
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis Journal Article
In: Mol Cell Probes, 26 (4), pp. 147–150, 2012.
2011
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient Journal Article
In: Mol Cell Probes, 25 (5-6), pp. 195–198, 2011.
2009
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease Journal Article
In: Genet Test Mol Biomarkers, 13 (2), pp. 185–191, 2009.
- Monserrato
simona.incollu@irgb.cnr.it
070 6754595
