@article {8348,
	title = {Clinical Spectrum of PRKAG2 Syndrome.},
	journal = {Circ Arrhythm Electrophysiol},
	volume = {9},
	year = {2016},
	month = {2016 Jan},
	pages = {e003121},
	keywords = {AMP-Activated Protein Kinases, DNA, Heart Conduction System, Humans, Mutation, Wolff-Parkinson-White Syndrome},
	issn = {1941-3084},
	doi = {10.1161/CIRCEP.115.003121},
	author = {Porto, Andrea Giuseppe and Brun, Francesca and Severini, Giovanni Maria and Losurdo, Pasquale and Fabris, Enrico and Taylor, Matthew R G and Mestroni, Luisa and Sinagra, Gianfranco}
}
@article {1779,
	title = {High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.},
	journal = {Diagn Mol Pathol},
	volume = {20},
	year = {2011},
	month = {2011 Sep},
	pages = {175-9},
	abstract = {<p>Hypertrophic cardiomyopathy (HCM) is the most frequent autosomal dominant genetic heart muscle disease and the most common cause of sudden cardiac death in young people (under 30 y of age), who are often unaware of their underlying condition. Genetic screening is now considered a fundamental tool for clinical management of HCM families. However, the high genetic heterogeneity of HCM makes genetic screening very expensive. Here, we propose a new high-throughput genotyping method based on a HCM 96-well sequencing plate for the analysis of 8 of the most frequent HCM-causing sarcomeric genes by automating several processes required for direct sequencing, using a commercially available robotic systems and routinely used instruments. To assess the efficiency of the robot-assisted method, we have analyzed the entire coding sequence and flanking intronic sequences of the 8 sarcomeric genes in samples from 18 patients affected by HCM and their relatives, which revealed 9 different mutations, 3 of which were novel. The automated, robot-assisted assembling of polymerase chain reaction, purification of polymerase chain reaction products, and assembly of sequencing reactions resulted in a substantial saving of time, reagent costs, and reduction of human errors, and can therefore be proposed as a primary strategy for mutation identification in HCM genetic screening in many medical genetic laboratories.</p>},
	keywords = {Cardiomyopathy, Hypertrophic, DNA Mutational Analysis, Genetic Predisposition to Disease, Genetic Testing, Genotyping Techniques, High-Throughput Nucleotide Sequencing, Humans, Muscle Proteins, Mutation, Robotics},
	issn = {1533-4066},
	doi = {10.1097/PDM.0b013e31820b34fb},
	author = {Bortot, Barbara and Athanasakis, Emmanouil and Brun, Francesca and Rizzotti, Diego and Mestroni, Luisa and Sinagra, Gianfranco and Severini, Giovanni Maria}
}
