Pinella Failla

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong et al. · Cell · 2014 · 788 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Autism Early +11

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

Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

Margherita Bonamico, P. Mariani, Helene Maria Danesi et al. · Journal of Pediatric Gastroenterology and Nutrition · 2001 · 143 citations

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Janneke Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers et al. · Journal of Medical Genetics · 2013 · 127 citations · Full text

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