Lucia Castiglia

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp, Heather C. Mefford, Kelly Li et al. · Nature Genetics · 2008 · 591 citations

Medicine, Genetics, Pediatrics +14

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak et al. · Genetics in Medicine · 2018 · 221 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Roberto Giorda, María Clara Bonaglia, Silvana Beri et al. · The American Journal of Human Genetics · 2009 · 73 citations · Full text

Life Sciences, Genetics, Neurology +14

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Hui Guo, Elisa Bettella, Paul C. Marcogliese et al. · Nature Communications · 2019 · 62 citations · Full text

Life Sciences, Genetics, Neuroscience +17

6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

Maurizio Elia, Pasquale Striano, Marco Fichera et al. · Epilepsia · 2006 · 50 citations · Full text

Medicine, Genetics, Molecular Genetics +15