Donatella Greco

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio et al. · Nature Communications · 2020 · 204 citations · Full text

Genetics, Most Genes, Disease Gene Identification +19

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

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant et al. · American Journal of Medical Genetics Part A · 2013 · 104 citations · Full text

Brain Development, Genetics, Duplication 17P13.3 +19

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli et al. · American Journal of Medical Genetics Part A · 2014 · 96 citations