Alessandra Splendore

Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

Hong Hua Li, Madhuri Roy, Unsal Kusçuoglu et al. · EMBO Molecular Medicine · 2009 · 106 citations · Full text

Whole‐genome array‐CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

Swaroop Aradhya, Melanie A. Manning, Alessandra Splendore et al. · American Journal of Medical Genetics Part A · 2007 · 66 citations

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix et al. · European Journal of Human Genetics · 2003 · 42 citations · Full text

Treacher Collins, Genetic Disorder, Genetics +5

TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature

Alessandra Splendore, Roberto D. Fanganiello, Cibele Masotti et al. · Human Mutation · 2005 · 41 citations

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Alessandra Splendore, Elias O. Silva, Luís Garcia Alonso et al. · Human Mutation · 2000 · 41 citations

Genetics, Genetic Epidemiology, Pathology +24