Rossella Capolino

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

RASopathies: Clinical Diagnosis in the First Year of Life

M. C. Digilio, Francesca Romana Lepri, Anwar Baban et al. · Molecular Syndromology · 2010 · 96 citations · Full text

Medicine, Cardiology, Pediatrics +11

Congenital heart defects in molecularly proven Kabuki syndrome patients

M. Cristina Digilio, Maria Gnazzo, Francesca Romana Lepri et al. · American Journal of Medical Genetics Part A · 2017 · 88 citations

Medicine, Cardiology, Genetics +16

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Francesca Romana Lepri, Rossana Scavelli, M. Cristina Digilio et al. · BMC Medical Genetics · 2014 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)

M. Cristina Digilio, Flaminia Calzolari, Rossella Capolino et al. · American Journal of Medical Genetics Part A · 2008 · 67 citations

Life Sciences, Cardiology, Genetics +17