Susan Marelli

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

María Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli et al. · European Journal of Human Genetics · 2008 · 146 citations · Full text

Genetic Disorder, Genetics, Clinical Genetics +8

Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

María Clara Bonaglia, Susan Marelli, Francesca Novara et al. · European Journal of Human Genetics · 2010 · 123 citations · Full text

Population Genetics, Genetics, Genotype-phenotype Association +1

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

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum

Romina Romaniello, Susan Marelli, Roberto Giorda et al. · Journal of Child Neurology · 2016 · 57 citations

Neuropsychology, Corticobasal Degeneration, Neurological Disorder +17