Pinella Failla
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, Celiac Disease Research and Management, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development(2014)800 cited
- → A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures(2008)591 cited
- → The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant(2015)185 cited
- → Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study(2001)143 cited
- → Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing(2013)127 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