Simona Incollu

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Antonietta Zappu, Magli Olympia, Maria Barbara Lepori et al. · Journal of Pediatric Gastroenterology and Nutrition · 2008 · 47 citations

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci et al. · European Journal of Human Genetics · 2013 · 47 citations · Full text

Allelic Variant, Haplotype Determination, Genotype-phenotype Association +13

Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin

Maria Barbara Lepori, Mario Lovicu, Valentina Dessì et al. · Genetic Testing · 2007 · 31 citations

Genetics, Pathology, Molecular Biology +16

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

Maria-Barbara Lepori, Antonietta Zappu, Simona Incollu et al. · Molecular and Cellular Probes · 2012 · 22 citations

Mendelian Disorder, Genetic Disorder, Genetics +9

RNA Analysis of Consensus Sequence Splicing Mutations: Implications for the Diagnosis of Wilson Disease

Mario Lovicu, Maria Barbara Lepori, Simona Incollu et al. · Genetic Testing and Molecular Biomarkers · 2009 · 15 citations

Rna Analysis, Functional Genomics, Mendelian Disorder +15