Mari Francesca

ITALY

Medical Genetics – Department of Molecular Genetics University of Siena.

PRESENT POSITION:
Assistant Professor in Medical Genetics School of Medicine, University of Siena.

RECOGNITIONS AND AWARDS:
I have gained in 2002 a scholarship as free attendance to the activities of the 5th Congress of the Italian Society of Human Genetics (SIGU) with a communication on “Autosomal Forms of Alport Syndrome, a model of transmission which Shades from Dominant to Recessive: Implications for
the Clinical Practice and the Genetic Counseling”.

RESEARCH EXPERIENCE:
Research activities are substantiated by 43 original publications and 6 reviews made on request.
Furthermore, my work has been recognized in several congresses by oral presentations and posters.
Research activities have mainly concerned the following topics:
Rett syndrome and mental retardation, MCA/MR (Multiple congenital anomalies and mental retardation), Microdeletion/microduplication syndromes, cases of genetic counseling, ATS-MR and Alport syndrome and Dyskeratosis Congenita.

PUBLICATIONS:
Epilepsy in Rett syndrome—Lessons from the Rett networked database.

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome.

Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing.

Rett networked database: An integrated clinical and genetic network of rett syndrome databases.

iPS cells to model CDKL5-related disorders.

Investigation of modifier genes within copy number variations in Rett syndrome.