Girolamo Aurelio Vitello

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 · 128 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

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 · 39 citations · Full text

Life Sciences, Genetics, Neurology +14

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Daniela Benedetto, Giuseppa Di Vita, Corrado Romano et al. · Molecular Cytogenetics · 2013 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Carrier screening for spinal muscular atrophy in Italian population

Giuseppa Ruggeri, Valeria Chiavetta, Carmela Scuderi et al. · Journal of Genetics · 2014 · 28 citations

Medicine, Genetics, Neurology +5