The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods

by Stocchi, Laura, Cascella, Raffaella, Zampatti, Stefania, Pirazzoli, Antonella, Novelli, Giuseppe, Giardina, Emiliano
Published 2012

The Genetics and the Genomics of Primary Congenital Glaucoma

by Cascella, Raffaella, Strafella, Claudia, Germani, Chiara, Novelli, Giuseppe, Ricci, Federico, Zampatti, Stefania, Giardina, Emiliano
Published in Biomed Res Int (2015)

Application of Precision Medicine in Neurodegenerative Diseases

by Strafella, Claudia, Caputo, Valerio, Galota, Maria R., Zampatti, Stefania, Marella, Gianluca, Mauriello, Silvestro, Cascella, Raffaella, Giardina, Emiliano
Published in Front Neurol (2018)

Genetic Variants Allegedly Linked to Antisocial Behaviour Are Equally Distributed Across Different Populations

by Zampatti, Stefania, Ragazzo, Michele, Fabrizio, Carlo, Termine, Andrea, Campoli, Giulia, Caputo, Valerio, Strafella, Claudia, Cascella, Raffaella, Caltagirone, Carlo, Giardina, Emiliano
Published in J Pers Med (2021)

Genetic Counselling Improves the Molecular Characterisation of Dementing Disorders

by Zampatti, Stefania, Ragazzo, Michele, Peconi, Cristina, Luciano, Serena, Gambardella, Stefano, Caputo, Valerio, Strafella, Claudia, Cascella, Raffaella, Caltagirone, Carlo, Giardina, Emiliano
Published in J Pers Med (2021)

Genetic Counseling and NGS Screening for Recessive LGMD2A Families

by Strafella, Claudia, Caputo, Valerio, Campoli, Giulia, Galota, Rosaria Maria, Mela, Julia, Zampatti, Stefania, Minozzi, Giulietta, Sancricca, Cristina, Servidei, Serenella, Giardina, Emiliano, Cascella, Raffaella
Published in High Throughput (2020)

Whole genome amplification and real-time PCR in forensic casework

by Asili Paola, Solla Gianluca, Ricci Omero, Gabriele Luciano, Marsala Patrizio, Zampatti Stefania, Martone Claudia, Pietrangeli Ilenia, Giardina Emiliano, Arcudi Giovanni, Spinella Aldo, Novelli Giuseppe
Published 2009-04-01

Whole genome amplification and real-time PCR in forensic casework

by Giardina, Emiliano, Pietrangeli, Ilenia, Martone, Claudia, Zampatti, Stefania, Marsala, Patrizio, Gabriele, Luciano, Ricci, Omero, Solla, Gianluca, Asili, Paola, Arcudi, Giovanni, Spinella, Aldo, Novelli, Giuseppe
Published 2009

Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease

by Gambardella, Stefano, Ferese, Rosangela, Scala, Simona, Carboni, Stefania, Biagioni, Francesca, Emiliano, Giardina, Zampatti, Stefania, Modugno, Nicola, Fabbiano, Francesco, Fornai, Francesco, Centonze, Diego, Ruggieri, Stefano
Published in Parkinsons Dis (2018)

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease

by Ferese, Rosangela, Scala, Simona, Biagioni, Francesca, Giardina, Emiliano, Zampatti, Stefania, Modugno, Nicola, Colonnese, Claudio, Storto, Marianna, Fornai, Francesco, Novelli, Giuseppe, Ruggieri, Stefano, Gambardella, Stefano
Published in Front Neurol (2018)

Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease”

by Gambardella, Stefano, Ferese, Rosangela, Scala, Simona, Carboni, Stefania, Biagioni, Francesca, Giardina, Emiliano, Zampatti, Stefania, Modugno, Nicola, Fabbiano, Francesco, Fornai, Francesco, Centonze, Diego, Ruggieri, Stefano
Published in Parkinsons Dis (2018)

Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study

by Ricci, Federico, Staurenghi, Giovanni, Lepre, Tiziana, Missiroli, Filippo, Zampatti, Stefania, Cascella, Raffaella, Borgiani, Paola, Marsella, Luigi Tonino, Eandi, Chiara Maria, Cusumano, Andrea, Novelli, Giuseppe, Giardina, Emiliano
Published 2013

Correction: Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study

by Ricci, Federico, Staurenghi, Giovanni, Lepre, Tiziana, Missiroli, Filippo, Zampatti, Stefania, Cascella, Raffaella, Borgiani, Paola, Marsella, Luigi Tonino, Eandi, Chiara Maria, Cusumano, Andrea, Novelli, Giuseppe, Giardina, Emiliano
Published 2013

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings

by Ferese, Rosangela, Modugno, Nicola, Campopiano, Rosa, Santilli, Marco, Zampatti, Stefania, Giardina, Emiliano, Nardone, Annamaria, Postorivo, Diana, Fornai, Francesco, Novelli, Giuseppe, Romoli, Edoardo, Ruggieri, Stefano, Gambardella, Stefano
Published in Parkinsons Dis (2015)

NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene

by Strafella, Claudia, Caputo, Valerio, Pagliaroli, Giulia, Iozzo, Nicola, Campoli, Giulia, Carboni, Stefania, Peconi, Cristina, Galota, Rosaria Maria, Zampatti, Stefania, Minozzi, Giulietta, Novelli, Giuseppe, Giardina, Emiliano, Cascella, Raffaella
Published in Genes (Basel) (2019)

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

by Campopiano, Rosa, Ferese, Rosangela, Zampatti, Stefania, Giardina, Emiliano, Biagioni, Francesca, Colonnese, Claudio, Centonze, Diego, Storto, Marianna, Buttari, Fabio, Fraviga, Edoardo, Broccoli, Vania, Fanelli, Mirco, Fornai, Francesco, Gambardella, Stefano
Published in BMC Neurol (2020)

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

by Strafella, Claudia, Campoli, Giulia, Galota, Rosaria Maria, Caputo, Valerio, Pagliaroli, Giulia, Carboni, Stefania, Zampatti, Stefania, Peconi, Cristina, Mela, Julia, Sancricca, Cristina, Primiano, Guido, Minozzi, Giulietta, Servidei, Serenella, Cascella, Raffaella, Giardina, Emiliano
Published in Front Neurol (2019)

Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD

by Cascella, Raffaella, Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Errichiello, Valeria, Scutifero, Marianna, Petillo, Roberta, Marella, Gian Luca, Arcangeli, Mauro, Colantoni, Luca, Zampatti, Stefania, Ricci, Enzo, Deidda, Giancarlo, Politano, Luisa, Giardina, Emiliano
Published in Front Neurol (2018)

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers

by Campopiano, Rosa, Femiano, Cinzia, Chiaravalloti, Maria Antonietta, Ferese, Rosangela, Centonze, Diego, Buttari, Fabio, Zampatti, Stefania, Fanelli, Mirco, Amatori, Stefano, D’Alessio, Carmelo, Giardina, Emiliano, Fornai, Francesco, Biagioni, Francesca, Storto, Marianna, Gambardella, Stefano
Published in Genes (Basel) (2021)