Patrizia Pappi

An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

Alessandro Saluto, Alessandro Brussino, Flora Tassone et al. · Journal of Molecular Diagnostics · 2005 · 100 citations

Life Sciences, Genetics, Molecular Genetics +13

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

Claudia Cagnoli, Giovanni Stévanin, Alessandro Brussino et al. · Human Mutation · 2010 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

Elisa Biamino, Eleonora Di Gregorio, Elga Fabia Belligni et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2015 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

HDR syndrome: A novel “de novo” mutation in <i>GATA3</i> gene

Silvio Ferraris, Angelo Giovanni Del monaco, Emanuela Garelli et al. · American Journal of Medical Genetics Part A · 2009 · 43 citations

Life Sciences, Genetics, Molecular Genetics +15

Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay

Claudia Cagnoli, Giovanni Stévanin, Chiara Michielotto et al. · Journal of Molecular Diagnostics · 2006 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8