Lucia Castiglia
Oasi Maria SS(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, Chromosomal and Genetic Variations
Most-Cited Works
- → A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures(2008)591 cited
- → Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants(2018)220 cited
- → Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations(2001)126 cited
- → Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females(2009)73 cited
- → Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders(2019)61 cited
- → 6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases(2006)50 cited