Rossella Capolino
Bambino Gesù Children's Hospital(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Congenital heart defects research, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, RNA modifications and cancer, Congenital Heart Disease Studies
Most-Cited Works
- → 3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs(2009)108 cited
- → Kabuki syndrome: clinical and molecular diagnosis in the first year of life(2014)100 cited
- → RASopathies: Clinical Diagnosis in the First Year of Life(2010)94 cited
- → Congenital heart defects in molecularly proven Kabuki syndrome patients(2017)84 cited
- → Diagnosis of Noonan syndrome and related disorders using target next generation sequencing(2014)68 cited
- → Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)(2008)67 cited
- → Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location