Giovanni Neri

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

Giuseppe Pilia, Rhiannon M. Hughes‐Benzie, Alex MacKenzie et al. · Nature Genetics · 1996 · 762 citations

Developmental Biology, Simpson-golabi-behmel Overgrowth Syndrome, Somatic Variant +10

Epigenetic Modification of the <i>FMR1</i> Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

Sébastien Jacquemont, Aurore Curie, Vincent des Portes et al. · Science Translational Medicine · 2011 · 610 citations

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 593 citations

Mendelian Disorder, Genetic Disorder, Germline Kras +4

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

Francesca Zalfa, Boris Eleuteri, Kirsten S. Dickson et al. · Nature Neuroscience · 2007 · 351 citations · Full text

Molecular Neuroscience, Natural Sciences, Genetics +12

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

Claudia Bagni, Flora Tassone, Giovanni Neri et al. · Journal of Clinical Investigation · 2012 · 321 citations · Full text

Fragile X Syndrome, Fmr1 Gene, Mendelian Disorder +13