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Since 2004 she worked in the Human Genetics laboratory at The Department of Biology, University of Padua. Initially she participated in a project on the use of mitochondrial and Y chromosome polymorphisms to study families with psychiatric disorders. Then she focused her research interests in identification of novel genes involved in hereditary cardiomyopathies. In particular, the identification of causative mutations in patients affected with arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomiopathy (HCM). From 2008 she concentrated her research activity to understand the effects of pathogenic mutations in genes codifying desmosomal proteins and to the identification of new pathogenic mutations in patients with ACM and HCM by next generation sequencing.
Human molecular genetics, genetics of inherited heart diseases, analysis of next generation sequencing data to gene discovery and in vitro functional analysis to understand the role of identified novel mutations in cardiomyopathies.
|Marzia De Bortoli|
|Editorial: J Clin Med Genomics 2018, 6: e104|
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