Claudia Torniero

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 · 588 citations

Mendelian Disorder, Genetic Disorder, Psychiatric Genetics +9

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

Claudia Torniero, Bernardo Dalla Bernardina, Francesca Novara et al. · European Journal of Human Genetics · 2008 · 116 citations · Full text

Biology, Medicine, Genetics +6

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

Syndromic Autism, Genetic Disorder, Genetics +9

Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases

Maria Grazia Figura, Antonietta Coppola, Maria Bottitta et al. · Seizure · 2014 · 72 citations

Neuropsychology, Neurological Disorder, Clinical Report +9

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus

Claudia Torniero, Bernardo Dalla Bernardina, Francesca Novara et al. · European Journal of Human Genetics · 2006 · 42 citations · Full text

Language Disorder, Neurolinguistics, Left Temporal Lobe +12