Silvia Spena

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene

Gloria Negri, Donatella Milani, P. Colapietro et al. · Clinical Genetics · 2014 · 86 citations

Rubinstein-taybi Syndrome, Brain Development, Genetics +26

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 86 citations

Molecular Neuroscience, Rubinstein–taybi Syndrome, Disease Mechanism +9

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

Rosanna Asselta, Stefano Duga, Silvia Spena et al. · Blood · 2001 · 78 citations · Full text

Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

Silvia Spena, Stefano Duga, Rosanna Asselta et al. · European Journal of Human Genetics · 2004 · 69 citations · Full text

Congenital Afibrinogenaemia, Developmental Biology, Genetic Disorder +4

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

José P. López‐Atalaya, Cristina Gervasini, Federica Mottadelli et al. · Journal of Medical Genetics · 2011 · 66 citations · Full text