Maria Grazia Patricelli

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

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 98 citations · Full text

XX males <i>SRY</i> negative: a confirmed cause of infertility: Figure 1

Annalisa Vetro, Roberto Ciccone, Roberto Giorda et al. · Journal of Medical Genetics · 2011 · 93 citations · Full text

A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea

Elena Rossi, Anna Verri, Maria Grazia Patricelli et al. · European Journal of Medical Genetics · 2008 · 73 citations