Roberto Giorda

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp, Heather C. Mefford, Kelly Li et al. · Nature Genetics · 2008 · 588 citations

Mendelian Disorder, Genetic Disorder, Psychiatric Genetics +9

Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto et al. · The American Journal of Human Genetics · 2001 · 396 citations · Full text

Allelic Variant, Genetics, Evolutionary Biology +1

Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

María Clara Bonaglia, Roberto Giorda, Renato Borgatti et al. · The American Journal of Human Genetics · 2001 · 323 citations · Full text

Gene Deletion Data, Deletion Syndrome, Signal Transduction +11

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 321 citations · Full text

Photoreceptor Cell, Ophthalmology, Genetic Disorder +5

Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation

Sabrina Giglio, Vladimiro Calvari, Giuliana Gregato et al. · The American Journal of Human Genetics · 2002 · 266 citations · Full text

Natural Sciences, Genetics, Molecular Biology +4