Anna Capalbo

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Agatino Battaglia, Viola Doccini, Laura Bernardini et al. · European Journal of Paediatric Neurology · 2013 · 207 citations

Life Sciences, Genetics, Molecular Genetics +17

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

M. Cristina Digilio, Laura Bernardini, Rita Mingarelli et al. · American Journal of Medical Genetics Part A · 2009 · 108 citations

Life Sciences, Genetics, Molecular Genetics +14

Whole gene deletion and splicing mutations expand thePINK1 genotypic spectrum

Roberta Marongiu, Francesco Brancati, Angelo Antonini et al. · Human Mutation · 2006 · 77 citations

Life Sciences, Genetics, Molecular Genetics +17

Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation

Laura Bernardini, Anna Capalbo, M D'Avanzo et al. · European Journal of Medical Genetics · 2006 · 75 citations

Life Sciences, Genetics, Molecular Genetics +14

Array‐based comparative genomic hybridization in early‐stage mycosis fungoides: Recurrent deletion of tumor suppressor genes <i>BCL7A, SMAC/DIABLO</i>, and <i>RHOF</i>

Angelo Carbone, Laura Bernardini, Francesco Valenzano et al. · Genes Chromosomes and Cancer · 2008 · 58 citations

Medicine, Genetics, Molecular Genetics +16